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. 2010 May 20:763–912. [Article in German] doi: 10.1007/978-3-211-88900-8_23

Pädiatrie

D Karall 2, B Meisinger 3, G Grissenauer 3, S Scholl-Bürgi 2, P Heinz-Erian 4, Florian Lagler 5, J O Sass 6, S Grünert 7, E-M Nussbaumer 7, K O Schwab 7, E Mönch 8, A Hofer 9, E Haberlandt 2, V Oppl 10, W Sperl 11, U Spiekerkötter 12, S Baumgartner Sigl 2, S Stöckler-Ipsiroglu 13
Editor: Maximilian Ledochowski1
PMCID: PMC7121950

Zusammenfassung

Was wir essen, wie viel, wie, mit wem, wann und wo ist ein Ausdruck von unseren frühesten Erfahrungen und entscheidet wesentlich über unser späteres Leben, unseren Ernährungszustand und unsere Gesundheit. Die Ernährung des Säuglings und Kindes hat zum Ziel, das Kind in den ersten Lebensjahren an eine ausgewogene Kost und den gemeinsamen Familientisch zu bringen. Essen ist dabei nicht nur ein physiologischer Vorgang, sondern wird von verschiedensten Einflussfaktoren (familiäre Strukturen, kulturelle Zusammenhänge, Mythen und Fakten über Nahrungsmittel und deren Zusammensetzung) geprägt, die bei der Wissensbildung über gesundes Essverhalten nicht einfach außer acht gelassen werden dürfen.

Contributor Information

D. Karall, Email: daniela.karall@i-med.ac.at.

B. Meisinger, Email: birgit.meisinger@uki.at

G. Grissenauer, Email: gertraud.grissenauer@uki.at

S. Scholl-Bürgi, Email: sabine.scholl-buergi@uki.at

P. Heinz-Erian, Email: peter.heinz-erian@uki.at

Florian Lagler, Email: florian.lagler@i-med.ac.at.

J. O. Sass, Email: joern.oliver.sass@uniklinik-freiburg.de

S. Grünert, Email: sarah.gruenert@uniklinik-freiburg.de

E.-M. Nussbaumer, Email: eva-maria.nussbaumer@uniklinik-freiburg.de

K. O. Schwab, Email: karl.otfried.schwab@uniklinik-freiburg.de

E. Mönch, Email: eberhard.moench@t-online.de

A. Hofer, Email: andrea.hofer@uki.at

E. Haberlandt, Email: edda.haberlandt@uki.at

V. Oppl, Email: veronika.oppl@uki.at

W. Sperl, Email: w.sperl@salk.at, www.mito-center.org

U. Spiekerkötter, Email: ute.spiekerkoetter@uni-duesseldorf.de

S. Baumgartner Sigl, Email: ara.baumgartner@aon.at

S. Stöckler-Ipsiroglu, Email: sstockler@cw.bc.ca

Literaturverzeichnis

  1. American Academy of Pediatrics Breastfeeding and the use of human milk. Pediatrics. 1997;100:1035–1039. doi: 10.1542/peds.100.6.1035. [DOI] [PubMed] [Google Scholar]
  2. Avomed — Arbeitskreis für Vorsorgemedizin . Der richtige Start ins Leben, Essen und Trinken für kleine Menschen von 0 bis 3. Innsbruck: Verleger Avomed; 2005. [Google Scholar]
  3. DACH-Gesellschaft für Ernährung . Referenzwerte für die Nährstoffzufuhr. Frankfurt am Main: Verlag Umschau Braus; 2000. pp. 23–64. [Google Scholar]
  4. Demmelmair H., von Rosen J., Koletzko B. Long-term consequences of early nutrition. Early Hum Dev. 2006;82(8):567–74. doi: 10.1016/j.earlhumdev.2006.07.004. [DOI] [PubMed] [Google Scholar]
  5. Dulon M., Kersting M., Schach S. Duration of breastfeeding and associated factors in Western and Eastern Germany. Acta Paediatr. 2001;90:931–935. [PubMed] [Google Scholar]
  6. Esberger M. Säuglingsernährung heute. Bundesministerium für Gesundheit. Wien: Familie und Jugend; 2007. [Google Scholar]
  7. European Commission, Directorate Public Health and Risk Assessment (2004) EU Project on Promotion of Breastfeeding in Europe. Protection, promotion and support of breastfeeding in Europe: a blueprint for action. http://europa.eu.int/comm/health/ph_projects/2002/promotion/promotion_2002_18_en.htm [17. 12. 2008]
  8. Eugster G. Babyernährung gesund und richtig, B(r)eikost und Fingerfood ab dem 6. Lebensmonat. München Jena: Verlag Urban&Fischer; 2005. [Google Scholar]
  9. Forschungsinstitut für Kinderernährung Dortmund (2005) Empfehlungen für die Ernährung von Säuglingen. DGE-Info 9/97, siehe auch www.fke-do.de [16. 12. 2008]
  10. Giovaninni M., Banderall G., Agostini D., Silano M., Radaelli G., Riva E. Epidemiology of breastfeeding in Italy. Acta Paediatr. 1999;430:19–22. doi: 10.1111/j.1651-2227.1999.tb01296.x. [DOI] [PubMed] [Google Scholar]
  11. Hanreich I. Essen und Trinken im Säuglingsalter. Wien: Verlag Hanreich; 2007. [Google Scholar]
  12. Hanreich I. Pfiffige Rezepte für kleine und große Leute. Wien: Verlag Hanreich; 2006. [Google Scholar]
  13. Hanreich I. Rezepte und Tipps für Babys Beikost. Wien: Verlag Hanreich; 2008. [Google Scholar]
  14. Hanreich I. Essen und Trinken im Kleinkindalter. Wien: Verlag Hanreich; 2008. [Google Scholar]
  15. Kersting M., Dulon M. Fakten zum Stillen in Deutschland, Ergebnisse der SuSe-Studie. Monatschr Kinderheilk. 2002;150:1196–1201. [Google Scholar]
  16. Lange C., Schenk L., Bergmann R. Verbreitung, Dauer und zeitlicher Trend des Stillens in Deutschland. Bundesgesundheitsbl-Gesundheitsforsch-Gesundheitsschutz. 2007;50:624–633. doi: 10.1007/s00103-007-0223-9. [DOI] [PubMed] [Google Scholar]
  17. Noble L., Hand I., Haynes D., McVeigh T., Kim M., Yoon J.J. Factors influencing initiation of breastfeeding among urban women. Am J Perinatol. 2003;20:477–483. doi: 10.1055/s-2003-814732. [DOI] [PubMed] [Google Scholar]
  18. Noble S. Maternal employment and the initiation of breastfeeding. Acta Paediatr. 2001;90:423–428. doi: 10.1080/08035250121419. [DOI] [PubMed] [Google Scholar]
  19. Österreichische Gesellschaft für Kinder-und Jugendheilkunde (2004) Alternative Tiermilchen in der Säuglingsernährung, http://www.docs4you.at/Content.Node/Vorsorgemedizin/Ernaehrung [16. 12. 2008]
  20. Phillips D.I., Barker D.J., Osmond C. Infant feeding, fetal growth and adult thyroid function. Acta Endocri-Endocrinol (Copenh) 1993;129(2):134–138. doi: 10.1530/acta.0.1290134. [DOI] [PubMed] [Google Scholar]
  21. Richtlinie 2006/141/EG (2006) Richtlinie 2006/141/EG der Kommission vom 22. Dezember 2006 über Säuglingsanfangsnahrung und Folgenahrung und zur Änderung der Richtlinie 1999/21/EG (Text von Bedeutung für den EWR), L401/1-L401/33
  22. Roschitz B., Plecko B., Huemer M., Biebl A., Foerster H., Sperl W. Nutritional infantile vitamin B12 deficiency: pathobiochemical considerations in seven patients. Arch Dis Child, Fetal Neonatal Ed. 2005;90:F281–F282. doi: 10.1136/adc.2004.061929. [DOI] [PMC free article] [PubMed] [Google Scholar]
  23. WHO — World Health Organization, Department of Child and Adolescent Health and Development (2000) Global Strategy for Infant and Young Child Feeding. www.who.int/health_topics/infant_nutrition/en [16. 12. 2008]
  24. Ylih ärsil én T., Barker D.J., Eriksson J.G. Body mass index during childhood and adult body composition in men and women aged 56–70 y. Am J Clin Nutr. 2008;87(6):1769–1775. doi: 10.1093/ajcn/87.6.1769. [DOI] [PubMed] [Google Scholar]
  25. Zittera I (2006) Stillen — Mythen und Fakten. Ärztemagazin 4/2006

Literaturverzeichnis

  1. Baker S.S., Baker R.D. Parenteral Nutrition. In: Walker W.A., Goulet O., Kleinmann R.E., Sherman P.M., Shneider B.L., Sanderson I.R., editors. Pediatric Gastrointestinal Disease. 4. ed. Hamilton: BC Decker; 2004. pp. 1958–1980. [Google Scholar]
  2. Berg N.O., Dahlquist A., Lindberg T., Studnitz W. Severe familial lactose intolerance — a gastrogen disorder? Acta Paediat Scand. 1969;58:525–527. doi: 10.1111/j.1651-2227.1969.tb04754.x. [DOI] [PubMed] [Google Scholar]
  3. Bird L.M., Sivagnanam M., Taylor S., Newbury R.O. A new syndrome of tufting enteropathy and choanal atresia with ophthalmologic, hematologic and hair abnormalities. Clin Dysmorphol. 2007;16:211–221. doi: 10.1097/MCD.0b013e328274264b. [DOI] [PubMed] [Google Scholar]
  4. Cutz E., Rhoads J.M., Drumm B., Sherman P.M., Durie P., Forstner G.G. Microvillus inclusion disease: an inherited defect of brush border assembly and differentiation. N Engl J Med. 1989;320:646–651. doi: 10.1056/NEJM198903093201006. [DOI] [PubMed] [Google Scholar]
  5. Davidson G.P., Cutz E., Hamilton J.R., Gall D.G. Familial enteropathy: a syndrome of protracted diarrhea from birth, failure to thrive and hypoplastic villus atrophy. Gastroenterology. 1978;75:783–790. [PubMed] [Google Scholar]
  6. Davis R.C., Diep A., Hunziker W., Klisak I., Mohandas T., Schotz M.C., Sparkes R.S., Lusis A.J. Assignment of human pancreatic lipase gene (PNLIP) to chromosome 10q24–q26. Genomics. 1991;11:1164–1166. doi: 10.1016/0888-7543(91)90048-j. [DOI] [PubMed] [Google Scholar]
  7. Guarino A., de Marco G. Persistent diarrhea. In: Walker W.A., Goulet O., Kleinmann R.E., Sherman P.M., Shneider B.L., Sanderson I.R., editors. Pediatric Gastrointestinal Disease. 4. ed. Hamilton: BC Decker; 2004. pp. 180–193. [Google Scholar]
  8. Goulet O., Youssef N., Ruemmele F. Microvillus inclusion disease and epithelial dysplasia. In: Guandalini S., editor. Textbook of Pediatric Gastroenterology and Nutrition. I. ed. London: Taylor & Francis; 2004. pp. 1–11. [Google Scholar]
  9. Heinz-Erian P. Chronischer Durchfall im Kindes-alter. Kinder-und Jugendmedizin. 2007;7:1. [Google Scholar]
  10. Heinz-Erian P., Müller T., Scholl-Bürgi S. Genetische Diarrhoe bei mukosalen Enzym-und Transportproteindefekten. Kinder-und Jugendmedizin. 2007;7:10–16. [Google Scholar]
  11. Heinz-Erian P., Schmidt H., Le Merrer M., Phillips A.D., Kiess W., Hadorn H.B. Congenital microvillus atrophy in a girl with autosomal dominant hypochondroplasia. J Pediatr Gastroenterol Nutr. 1999;28:203–205. doi: 10.1097/00005176-199902000-00022. [DOI] [PubMed] [Google Scholar]
  12. Heinz-Erian P, Müller Th, Zoller H, Margreiter R, Janecke A (2008) Diagnosis of congenital chloride diarrhea after 18 years of constipation due to chronic dehydration. N Engl J Med, in preparation
  13. Hennekam R.C.M., Geerdink R.A., Hamel B., Hennekam F.A.M., Kraus P., Rammeloo J.A., Tillemans A.A.W. Autosomal recessive intestinal lymphangiectasia and lymphedema with facial abnormalities and mental retardation. Am J Med Genet. 1989;34:593–600. doi: 10.1002/ajmg.1320340429. [DOI] [PubMed] [Google Scholar]
  14. Hoglund P., Haila S., Socha J., Tomaszewski L., Sariaalho-Kere U., Karjalainen-Lindberg M.L., Airola K., Holmberg C., de la Chapelle A., Kere J. Mutations of the Down-regulated in adenoma (DRA) gene cause congenital chloride diarrhoea. Nat Genet. 1996;14:316–319. doi: 10.1038/ng1196-316. [DOI] [PubMed] [Google Scholar]
  15. Holmberg C., Perheentupa J. Congenital Na+ diarrhoea: a new type of secretory diarrhoea. J Pediatr. 1985;106:56–61. doi: 10.1016/s0022-3476(85)80465-0. [DOI] [PubMed] [Google Scholar]
  16. Holzinger A., Maier E.M., Buck C. Mutations in the proenteropeptidase gene are the molecular cause of congenital enteropeptidase deficiency. Am J Hum Genet. 2002;70:20–25. doi: 10.1086/338456. [DOI] [PMC free article] [PubMed] [Google Scholar]
  17. Jones B., Jones E.L., Bonney S.A., Patel H.N., Mensenkamp A.R., Eichenbaum-Voline S., Rudling M., Myrdal U., Annesi G., Naik S., Meadows N., Quattrone A. Mutations in a Sar1 GTPase of COPII vesicles are associated with lipid absorption disorders. Nat Genet. 2003;34:29–31. doi: 10.1038/ng1145. [DOI] [PubMed] [Google Scholar]
  18. Kuokkanen M., Kokkunen J., Enattah N.S., Ylisaukko-Oja T., Komu H., Varilo T., Savilahti E., Jarvela I. Mutations in the translated region of the lactase gene (LCT) underlie congenital lactase deficiency. Am J Hum Genet. 2006;78:339–344. doi: 10.1086/500053. [DOI] [PMC free article] [PubMed] [Google Scholar]
  19. Kury S., Dreno B., Bezieau S., Giraudet S., Kharfi M., Kamoun R., Moisan J.P. Identification of SLC39A4, a gene involved in acrodermatitis enteropathica. Nat Genet. 2002;31:239–240. doi: 10.1038/ng913. [DOI] [PubMed] [Google Scholar]
  20. Lebenthal E., Khin-Maung U., Zheng B.Y., Lu R.B., Lerner A. Small intestinal glucoamylase deficiency and starch malabsorption: a newly recognized alpha-glucosidase deficiency in children. J Pediatr. 1994;124:541–546. doi: 10.1016/s0022-3476(05)83131-2. [DOI] [PubMed] [Google Scholar]
  21. Martin G.M., Wright E.M. Congenital Intestinal Transport Defects. In: Walker W.A., Goulet O., Kleinmann R.E., Sherman P.M., Shneider B.L., Sanderson I.R., editors. Pediatric Gastrointestinal Disease. 4. ed. Hamilton: BC Decker; 2004. pp. 1958–1980. [Google Scholar]
  22. Müller T., Wijmenga C., Phillips A.D., Janecke A., Houwen R.H.J., Fischer H., Ellemunter H., Frühwirth M., Offner F., Hofer S., Müller W., Booth I.W., Heinz-Erian P. Congenital sodium diarrhea is an autosomal recessive disorder of sodium/proton exchange but unrelated to known candidate genes. Gastroenterology. 2000;119:1506–1513. doi: 10.1053/gast.2000.20514. [DOI] [PubMed] [Google Scholar]
  23. Naim H.Y., Roth J., Sterchi E.E., Lentze M., Schmitz J., Hauri H.P. Sucrase-Isomaltase deficiency in humans. Different mutations disrupt intracellular transport, processing and function of an intestinal brush border enzyme. J Clin Invest. 1988;82:667–679. doi: 10.1172/JCI113646. [DOI] [PMC free article] [PubMed] [Google Scholar]
  24. Oelkers P., Kirby L.C., Heubi J.E., Dawson P.A. Primary bile acid malabsorption caused by mutations in the ileal sodium-dependent bile acid transporter gene (SLC10A2) J Clin Invest. 1997;99:1880–1887. doi: 10.1172/JCI119355. [DOI] [PMC free article] [PubMed] [Google Scholar]
  25. Ohashi K., Ishibashi S., Osuga J., Tozawa R., Harada K., Yahagi N., Shionoiri F., Iizuka Y., Tamura Y., Nagai R., Illingworth D.R., Gotoda T., Yamada N. Novel mutations in the microsomal triglyceride transfer protein gene causing abetalipoproteinemia. J Lipid Res. 2000;41:1199–1204. [PubMed] [Google Scholar]
  26. Patey N., Scoazec J.Y., Cuenod-Jabri B., Canioni D., Kedinger M., Goulet O., Brousse N. Distribution of cell adhesion molecules in infants with intestinal epithelial dysplasia (tufting enteropathy) Gastroenterology. 1997;113:833–843. doi: 10.1016/s0016-5085(97)70178-1. [DOI] [PubMed] [Google Scholar]
  27. Reifen R.M., Cutz E., Griffiths A.M., Ngan B.Y., Sherman P.M. Tufting enteropathy: a newly recognized clinicopathological entity associated with refractory diarrhea in infants. J Pediatr Gastroenterol Nutr. 1994;18:379–385. doi: 10.1097/00005176-199404000-00022. [DOI] [PubMed] [Google Scholar]
  28. Rowen L., Koop B.F., Hood L. The complete 685-kilobase DNA sequence of the human beta T cell receptor locus. Science. 1996;272:1755–1762. doi: 10.1126/science.272.5269.1755. [DOI] [PubMed] [Google Scholar]
  29. Santer R., Schneppenheim R., Dombrowski A., Götze H., Steinmann B., Schaub J. Mutations in GLUT2, the gene for the liver-type glucose transporter, in patients with Fanconi-Bickel syndrome. Nat Genet. 1997;17:324–326. doi: 10.1038/ng1197-324. [DOI] [PubMed] [Google Scholar]
  30. Scholl-Bürgi S., Müller T., Heinz-Erian P. Genetische Diarrhoe bei Strukturschädigung der Darmmukosa Kinder-und Jugendmedizin. 2007;7:5–9. [Google Scholar]
  31. Strober W., Wochner R.D., Carbone P.P., Waldmann T.A. Intestinal lymphangiektasia: a protein-loosing enteropathy with hypogammaglobulinemia, lymphcytopenia and impaired homograft rejection. J Clin Invest. 1967;46:1643–1656. doi: 10.1172/JCI105656. [DOI] [PMC free article] [PubMed] [Google Scholar]
  32. Swallow D.M., Hollox E.J. Genetic polymorphism of intestinal lactase activity in adult humans. In: Scriver C.R., Beaudet A.L., Sly W.S., Valle D., editors. The Metabolic and Molecular Basis of Inherited Disease. 8th ed. New York: Mc Graw-Hill; 2001. pp. 1651–1663. [Google Scholar]
  33. Torrents D., Mykkänen J., Pineda M., Feliubadalo L., Estevez R., de Cid R., Sanjurjo P., Zorzano A., Nunes V., Huoponen K., Reinikainen A., Simell O., Savontaus M.L., Aula P., Palacin M. Identification of SLC7A7, encoding y+LAT-1, as the lysinuric protein intolerance gene. Nat Genet. 1999;21:293–296. doi: 10.1038/6809. [DOI] [PubMed] [Google Scholar]
  34. Turk E., Zabel B., Mundlos S., Dyer J., Wright E.M. Glucose/galactose malabsorption caused by a defect in the Na(+)/glucose cotransporter. Nature. 1991;350:354–356. doi: 10.1038/350354a0. [DOI] [PubMed] [Google Scholar]
  35. Walder Y.W., Landau D., Meyer P., Shalev H., Tsolia M., Borochowitz Z., Boettger M.B., Beck G.E., Englehardt R.K., Carmi R., Sheffield V.C. Mutation of TRPM6 causes familial hypomagnesemia with secondary hypocalcemia. Nat Genet. 2002;31:171–174. doi: 10.1038/ng901. [DOI] [PubMed] [Google Scholar]
  36. Walker-Smith J. Intractable Diarrhea. In: Walker-Smith J., editor. Diseases of the Small Intestine. 4. ed. Oxford: Isis Medical Media; 1999. pp. 279–298. [Google Scholar]
  37. Wasserman D., Hoekstra J.H., Vasundhara T., Taylor C.J., Kirschner B.S., Takeda J., Bell G.I., Taub R., Rand E.B. Molecular analysis of the fructose transporter gene (GLUT5) in isolated fructose malabsorption. J Clin Invest. 1996;98:2398–2402. doi: 10.1172/JCI119053. [DOI] [PMC free article] [PubMed] [Google Scholar]
  38. Wang J., Cortina G., Wu S.V., Tran R., Cho J.H., Tsai M.J., Bailey T.J., Jamrich M., Ament M.E., Treem W.R., Hill I.D., Vargas J.H., Gershman G., Farmer D.G., Reyen L., Martin M.G. Mutant neurogenin-3 in congenital malabsorptive diarrhea. N Engl J Med. 2006;355:270–280. doi: 10.1056/NEJMoa054288. [DOI] [PubMed] [Google Scholar]
  39. Yuan B., Neuman R., Duan S.H., Weber J.L., Kwok P.Y., Saccone N.L., Wu J.S., Liu K.Y., Schonfeld G. Linkage of a gene for familial hypolipoproteinemia to chromosome 3p21.1–22. Am J Hum Genet. 2000;66:1699–1704. doi: 10.1086/302904. [DOI] [PMC free article] [PubMed] [Google Scholar]

Literaturverzeichnis

  1. Andersen A.E., Avins L. Lowering Brain Phenylalanine Levels by Giving Other Large Neutral Amino-Acids — New Experimental Therapeutic Approach to Phenylketonuria. Archives of Neurology. 1976;33:684–686. doi: 10.1001/archneur.1976.00500100018008. [DOI] [PubMed] [Google Scholar]
  2. Bickel H., Gerrard J., Hickmans E.M. Influence of Phenylalanine Intake on Phenylketonuria. Lancet. 1953;265:812–813. doi: 10.1016/s0140-6736(53)90473-5. [DOI] [PubMed] [Google Scholar]
  3. Blau N. Nomenclature and laboratory diagnosis of tetrahydrobiopterin deficiencies. In: Blau N., editor. PKU and BH4. Heilbronn: SPS Verlagsgesellschaft; 2006. pp. 555–568. [Google Scholar]
  4. Blau N., Thöny B., Hyland K. Disorders of tetrahydrobiopterin and related biogenic amines. In: Scriver C.R., Beaudet A.L., Sly W., Valle D., editors. The Metabolic and Molecular Bases of Inherited Disease. New York: McGraw-Hill; 2001. pp. 1725–1776. [Google Scholar]
  5. Burgard P., Bremer H.J., Buhrdel P., Clemens P.C., Monch E., Przyrembel H., Trefz F.K., Ullrich K. Rationale for the German recommendations for phenylalanine level control in phenylketonuria 1997. Eur J Pediatr. 1999;158:46–54. doi: 10.1007/s004310051008. [DOI] [PubMed] [Google Scholar]
  6. Burgard P, Clemens P, Pietz J, Wendel U (2008) Stellungnahme zum Einsatz von “PreKUnil” in der Behandlung erwachsener Patienten mit Phenylketonurie. Arbeitsgemeinschaft für Pädiatrische Stoffwechselstörungen (APS) der Deutschen Gesellschaft für Kinderheilkunde und Jugendmedizin (available under: www.aps-med.de; 2008-09-02)
  7. Burlina A.B. Hepatocyte transplantation for inborn errors of metabolism. Journal of Inherited Metabolic Disease. 2004;27:373–383. doi: 10.1023/B:BOLI.0000031095.57411.8d. [DOI] [PubMed] [Google Scholar]
  8. Burton B.K., Grange D.K., Milanowski A., Vockley G., Feillet F., Crombez E.A., Abadie V., Harding C.O., Cederbaum S., Dobbelaere D., Smith A., Dorenbaum A. The response of patients with phenylketonuria and elevated serum phenylalanine to treatment with oral sapropterin dihydrochloride (6R-tetrahydrobiopterin): a phase II, multicentre, open-label, screening study. J Inherit Metab Dis. 2007;30:700–707. doi: 10.1007/s10545-007-0605-z. [DOI] [PubMed] [Google Scholar]
  9. Desviat L.R., Perez B., Belanger-Quintana A., Castro M., Aguado C., Sanchez A., Garcia M.J., Martinez-Pardo M., Ugarte M. Tetrahydrobiopterin responsiveness: results of the BH4 loading test in 31 Spanish PKU patients and correlation with their genotype. Mol Genet Metab. 2004;83:157–162. doi: 10.1016/j.ymgme.2004.06.007. [DOI] [PubMed] [Google Scholar]
  10. Ding Z., Harding C.O., Thony B. State-of-the-art 2003 on PKU gene therapy. Mol Genet Metab. 2004;81:3–8. doi: 10.1016/j.ymgme.2003.09.010. [DOI] [PMC free article] [PubMed] [Google Scholar]
  11. Donlon J., Levy H., Scriver C.R. Hyperphenylalaninemia: phenylalanine hydroxylase deficiency. In: Scriver C., Beaudet A., Sly S., Valle D., editors. The metabolic and molecular bases of inherited disease. New York: McGraw-Hill; 2007. [Google Scholar]
  12. Dudesek A., Roschinger W., Muntau A.C., Seidel J., Leupold D., Thony B., Blau N. Molecular analysis and long-term follow-up of patients with different forms of 6-pyruvoyl-tetrahydropterin synthase deficiency. European Journal of Pediatrics. 2001;160:267–276. doi: 10.1007/s004310000722. [DOI] [PubMed] [Google Scholar]
  13. Elsas LJII, Acosta PB (2006) Inherited metabolic disease: Amino acids, organic acids, and galctose. In: Shils ME, Shike M, Roth AC, Caballero B, Cousins RJ (eds) Modern nutrition in health and disease. Lippincott Williams & Wilkins, pp 909–959
  14. Fiori L., Fiege B., Riva E., Giovannini M. Incidence of BH(4)-responsiveness in phenylalanine-hydroxylase-deficient Italian patients. Mol Genet Metab. 2005;86:67–74. doi: 10.1016/j.ymgme.2005.06.017. [DOI] [PubMed] [Google Scholar]
  15. Foelling A. Über die Ausscheidung von Phenylbrenztraubensäure in Harn und Blut bei Imbecillitas phenylpyruvica. Hoppe-Seylers Z Physiol Chem. 1934;227:169. [Google Scholar]
  16. Guthrie R., Susi A. A Simple Phenylalanine Method for Detecting Phenylketonuria in Large Populations of Newborn Infants. Pediatrics. 1963;32:338–343. [PubMed] [Google Scholar]
  17. Hyland K. Tetrahydrobiopterin deficiencies with hyperphenylalaninemia. In: Blau N., editor. PKU and BH4. Heilbronn: SPS Verlagsgesellschaft; 2006. pp. 568–577. [Google Scholar]
  18. Hyland K. Tetrahydrobiopterin deficiencies with hyperphenylalaninemia. 2006: 568–577
  19. Jervis G.A. Studies on Phenylpyruvic Oligophrenia — the Position of the Metabolic Error. Journal of Biological Chemistry. 1947;169:651–656. [PubMed] [Google Scholar]
  20. Kure S., Hou D.C., Ohura T., Iwamoto H., Suzuki S., Sugiyama N., Sakamoto O., Fujii K., Matsubara Y., Narisawa K. Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency. J Pediatr. 1999;135:375–378. doi: 10.1016/s0022-3476(99)70138-1. [DOI] [PubMed] [Google Scholar]
  21. Levy H.L., Milanowski A., Chakrapani A., Cleary M., Lee P., Trefz F.K., Whitley C.B., Feillet F., Feigenbaum A.S., Bebchuk J.D., Christ-Schmidt H., Dorenbaum A. Efficacy of sapropterin dihydrochloride (tetrahydrobiopterin, 6R-BH4) for reduction of phenylalanine concentration in patients with phenylketonuria: a phase III randomised placebo-controlled study. Lancet. 2007;370:504–510. doi: 10.1016/S0140-6736(07)61234-3. [DOI] [PubMed] [Google Scholar]
  22. Liebl B., Muntau A.C., Fingerhut R., Knerr I., Röschinger W., Nennstiel-Ratzel U. Screening-Handbuch: Fachschrift zum Neugeborenen-Screening auf angeborene Stoffwechselstörungen und Endokrinopathien. Heilbronn: SPS Verlagsgesellschaft; 2002. [Google Scholar]
  23. Matalon R., Michals-Matalon K., Koch R., Grady J., Tyring S., Stevens R.C. Response of patients with phenylketonuria in the US to tetrahydrobiopterin. Mol Genet Metab. 2005;86(Suppl 1):S17–S21. doi: 10.1016/j.ymgme.2005.06.024. [DOI] [PubMed] [Google Scholar]
  24. Michals-Matalon K. Sapropterin dihydrochloride, 6-R-L-erythro-5,6,7,8-tetrahydrobiopterin, in the treatment of phenylketonuria. Expert Opin Investig Drugs. 2008;17:245–251. doi: 10.1517/13543784.17.2.245. [DOI] [PubMed] [Google Scholar]
  25. Mönch E., Link R. Diagnostik und Therapie bei angeborenen Stoffwechselstörungen. Heilbronn: SPS Verlagsgesellschaft; 2006. [Google Scholar]
  26. Muntau A.C., Beblo S., Koletzko B. Phenylketonurie und Hyperphenylalaninämie. Monatsschrift Kinderheilkunde. 2000;148:179–193. [Google Scholar]
  27. Muntau A.C., Roschinger W., Habich M., Demmelmair H., Hoffmann B., Sommerhoff C.P., Roscher A.A. Tetrahydrobiopterin as an alternative treatment for mild phenylketonuria. N Engl J Med. 2002;347:2122–2132. doi: 10.1056/NEJMoa021654. [DOI] [PubMed] [Google Scholar]
  28. Penrose L.S. Inheritance of phenylpyruvic amentia (phenylketonuria) Lancet. 1935;2:192–194. [Google Scholar]
  29. Perez-Duenas B., Vilaseca M.A., Mas A., Lambruschini N., Artuch R., Gomez L., Pineda J., Gutierrez A., Mila M., Campistol J. Tetrahydrobiopterin responsiveness in patients with phenylketonuria. Clin Biochem. 2004;37:1083–1090. doi: 10.1016/j.clinbiochem.2004.09.005. [DOI] [PubMed] [Google Scholar]
  30. Sarkissian C. Enzyme Therapy for PKU. In: Blau N., editor. PKU and BH4. Heilbronn: SPS Verlagsgesellschaft; 2006. pp. 350–369. [Google Scholar]
  31. Shintaku H., Fujioka H., Sawada Y., Asada M., Yamano T. Plasma biopterin levels and tetrahydrobiopterin responsiveness. Mol Genet Metab. 2005;86:104–106. doi: 10.1016/j.ymgme.2005.06.018. [DOI] [PubMed] [Google Scholar]
  32. Trefz F. Maternal PKU. In: Blau N., editor. PKU and BH4. Heilbronn: SPS Vertragsgesellschaft; 2006. pp. 261–276. [Google Scholar]
  33. US Food and Drug Administration (2008) Labelling information for KuvanTM. Available under: http://www.fda.gov (2008-09-02)
  34. Vajro P., Strisciuglio P., Houssin D., Huault G., Laurent J., Alvarez F., Bernard O. Correction of phenylketonuria after liver transplantation in a child with cirrhosis. N Engl J Med. 1993;329:363. doi: 10.1056/NEJM199307293290517. [DOI] [PubMed] [Google Scholar]
  35. Weglage J., Ullrich K., Pietsch M., Funders B., Guttler F., Harms E. Intellectual, neurologic, and neuropsychologic outcome in untreated subjects with nonphenylketonuria hyperphenylalaninemia. Pediatric Research. 1997;42:378–384. doi: 10.1203/00006450-199709000-00020. [DOI] [PubMed] [Google Scholar]

Literaturverzeichnis

  1. Bakri R.S., Afzali B., Covic A., Sriskantharan R., Bharma-Ariza P., Park W.-H., Sriharan M., Dalton N., Wierzbicki A.S., Crook M.A., Goldsmith D.J.A. Cardiovascular disease in renal allograft recipients is associated with elevated sialic acid or markers of inflammation. Clini-Clinical Transplantation. 2004;18:201–204. doi: 10.1111/j.1399-0012.2004.00156.x. [DOI] [PubMed] [Google Scholar]
  2. Brosnan J.T., Brosnan M.E. The sulfur-containing amino acids: an overview. The Journal of Nutrition. 2006;136:1636–1640. doi: 10.1093/jn/136.6.1636S. [DOI] [PubMed] [Google Scholar]
  3. Carmel R. Cobalamin (Vitamin B12) In: Shils M.E., Shike M., editors. Modern Nutrition in Health and Disease. Baltimore: Lippincott Raven; 2006. pp. 482–497. [Google Scholar]
  4. Carmel R. Folic Acid. In: Shils M.E., Shike M., editors. Modern Nutrition in Health and Disease. Baltimore: Lippincott Raven; 2006. pp. 470–481. [Google Scholar]
  5. Carmel R, Green R, Rosenblatt DS, Watkins D (2003) Update on cobalamin, folate, and homocysteine. Hematology Am Soc Hematol Educ Program: 62–81 [DOI] [PubMed]
  6. Castro R., Rivera I., Blom H.J., Jakobs C., Tavares de Almeida I. Homocysteine metabolism, hyperhomocysteinaemia and vascular disease: an overview. J Inherit Metab Dis. 2006;29:3–20. doi: 10.1007/s10545-006-0106-5. [DOI] [PubMed] [Google Scholar]
  7. Coelho D., Suormala T., Stucki M., Lerner-Ellis J.P., Rosenblatt D.S., Newbold R.F., Baumgartner M.R., Fowler B. Gene identification for the cblD defect of vitamin B12 metabolism. The New England Journal of Medicine. 2008;358:1454–1464. doi: 10.1056/NEJMoa072200. [DOI] [PubMed] [Google Scholar]
  8. Collaboration H.S. Homocysteine and risk of ischemic heart disease and stroke: a meta-analysis. JAMA. 2002;288:2015–2022. doi: 10.1001/jama.288.16.2015. [DOI] [PubMed] [Google Scholar]
  9. Dierkes J., Westphal S. Effect of drugs on homocysteine concentrations. Seminars in Vascular Medicine. 2005;5:124–139. doi: 10.1055/s-2005-872398. [DOI] [PubMed] [Google Scholar]
  10. Elsas L.J., Acosta P.B. Inherited Metabolic Disease: Amino Acids, Organic Acids, And Galactose. In: Shils M.E., Shike M., editors. Modern Nutrition in Health and Disease. Baltimore: Lippincott Raven; 2006. pp. 909–959. [Google Scholar]
  11. Finkelstein J.D. Methionine metabolism in mammals. The Journal of Nutritional Biochemistry. 1990;1:228–237. doi: 10.1016/0955-2863(90)90070-2. [DOI] [PubMed] [Google Scholar]
  12. Finkelstein J.D. Pathways and regulation of homocysteine metabolism in mammals. Semin Thromb Hemost. 2000;26:219–225. doi: 10.1055/s-2000-8466. [DOI] [PubMed] [Google Scholar]
  13. Finkelstein J.D. Inborn errors of sulfur-containing amino acid metabolism. J Nutr. 2006;136:1750–1754. doi: 10.1093/jn/136.6.1750S. [DOI] [PubMed] [Google Scholar]
  14. Finkelstein J.D., Martin J.J. Homocysteine. Int J Biochem Cell Biol. 2000;32:385–389. doi: 10.1016/s1357-2725(99)00138-7. [DOI] [PubMed] [Google Scholar]
  15. Fowler B. Homocysteine: overview of biochemistry, molecular biology, and role in disease processes. Semin Vasc Med. 2005;5:77–86. doi: 10.1055/s-2005-872394. [DOI] [PubMed] [Google Scholar]
  16. Huemer M., Födinger M., Crone J., Plecko B., Stöckler-Ipsiroglu S. Hyperhomozysteinämie — Ursachen, Krankheitsbilder und therapeutische Optionen. Monatsschrift Kinderheilkunde. 2004;152:685–691. [Google Scholar]
  17. Mudd S., Levy H., Kraus J. Disorders of transsulfuration. In: Scriver C., Beaudet A., Sly W., Valle D., editors. The Metabolic and Molecular Bases of Inherited Disease. New York: McGraw-Hill; 2001. pp. 2007–2056. [Google Scholar]
  18. Refsum H., Grindflek A.W., Ueland P.M., Fredriksen A., Meyer K., Ulvik A., Guttormsen A.B., Iversen O.E., Schneede J., Kase B.F. Screening for serum total homocysteine in newborn children. Clinical Chemistry. 2004;50:1769–1784. doi: 10.1373/clinchem.2004.036194. [DOI] [PubMed] [Google Scholar]
  19. Rosenblatt D., Erbe R. Inherited disorders of folate and cobalamin transport and metabolism. In: Scriver C., Beaudet A., Sly W., Valle D., editors. The Metabolic and Molecular Bases of Inherited Disease. New York: McGraw-Hill; 2001. pp. 2007–2056. [Google Scholar]
  20. Stipanuk M.H. Homocysteine, Cysteine and Taurine. In: Shils M.E., Shike M., editors. Modern Nutrition in Health and Disease. Baltimore: Lippincott Raven; 2006. pp. 545–562. [Google Scholar]

Literaturverzeichnis

  1. Ashorn M., Pitkanen S., Salo M.K., Heikinheimo M. Current strategies for the treatment of hereditary tyrosinemia type I. Paediatr Drugs. 2006;8:47–54. doi: 10.2165/00148581-200608010-00004. [DOI] [PubMed] [Google Scholar]
  2. EMEA Ausschuss für Humanarzneimittel (CHMP) (2007) Europäischer öffentlicher Beurteilungsbericht (EPAR): Orfadin. http://www. emea. europa. eu/humandocs/PDFs/EPAR/Orfadin/H-555-PI-de.pdf Accession Date 25. 08. 2008
  3. Holme E., Lindstedt S. Nontransplant treatment of tyrosinemia. Clin Liver Dis. 2000;4:805–814. doi: 10.1016/s1089-3261(05)70142-2. [DOI] [PubMed] [Google Scholar]
  4. Kvittingen E., Holme E. Disorders of Tyrosine Metabolism. In: Fernandes J., Saudubray J.M., van den Berghe G., editors. Inborn Metabolic Diseases — Diagnosis and Treatment. Heidelberg: Springer-Verlag; 2000. pp. 187–194. [Google Scholar]
  5. Liebl B., Muntau A., Fingerhut R., Knerr I., Röschinger W., Nennstiel-Ratzel U. Screening-Handbuch: Fachschrift zum Neugeborenen-Screening auf angeborene Stoffwechselstörungen und Endokrinopathien. Heilbronn: SPS Verlagsgesellschaft; 2002. [Google Scholar]
  6. Mitchell G., Grompe M., Lambert M., Tanguay R. Hypertyrosinemia. In: Scriver C.R., Beaudet A.L., Sly W.S., Valle D., editors. The Metabolic and Molecular Bases of Inherited Disease. New York: McGraw-Hill; 2001. pp. 1777–1805. [Google Scholar]
  7. Mönch E., Link R. Diagnostik und Therapie bei angeborenen Stoffwechselstörungen. Heilbronn: SPS Verlagsgesellschaft; 2006. [Google Scholar]
  8. Poudrier J., Lettre F., Scriver C.R., Larochelle J., Tanguay R.M. Different clinical forms of hereditary tyrosinemia (type I) in patients with identical genotypes. Mol Genet Metab. 1998;64:119–125. doi: 10.1006/mgme.1998.2695. [DOI] [PubMed] [Google Scholar]
  9. Rodeck B., Baumann U. Tyrosinämie Typ I. Monatsschrift Kinderheilkunde. 2004;152:1095–1101. [Google Scholar]

Literaturverzeichnis

  1. Arbeitsgemeinschaft Pädiatrische Diätetik . Nährwerttabelle für die Ernährung bei angeborenen Störungen des Aminosäurenstoffwechsels. 6. Auflage. Heilbronn: SPS Verlagsgesellschaft; 2004. [Google Scholar]
  2. Chuang D.T., Shih V.E. Maple syrup urine disease (branched-chain ketoaciduria) In: Scriver C.R., Beaudet A.L., Sly W.S., Valle D., editors. The Metabolic and Molecular Bases of Inherited Diseases. 8. Auflage. New York: McGraw-Hill; 2001. pp. 1971–2005. [Google Scholar]
  3. D-A-CH — Deutsche Gesellschaft für Ernährung, Österreichische Gesellschaft für Ernährung, Schweizerische Gesellschaft für Ernährungsforschung, Schweizerische Vereinigung für Ernährung . Referenzwerte für die Nährstoffzufuhr. Frankfurt/Main: Umschau/Braus; 2000. [Google Scholar]
  4. Duran M., Wadman S.K. Thiamine-responsive inborn errors of metabolism. J Inherit Metab Dis. 1985;8:70–75. doi: 10.1007/BF01800663. [DOI] [PubMed] [Google Scholar]
  5. Ensenauer R., Vockley J., Willard J.M., Huey J.C., Sass J.O., Edland S.D., Burton B.K., Berry S.A., Santer R., Grünert S., Koch H.G., Marquardt I., Rinaldo P., Hahn S., Matern D. A common mutation is associated with a mild, potentially asymptomatic phenotype in patients with isovaleric acidemia diagnosed by newborn screening. Am J Hum Genet. 2004;75:1136–1142. doi: 10.1086/426318. [DOI] [PMC free article] [PubMed] [Google Scholar]
  6. Fenton W.A., Gravel W.A., Rosenblatt D.S. Disorders of propionate and methylmalonate metabolism. In: Scriver C.R., Beaudet A.L., Sly W.S., Valle D., editors. The Metabolic and Molecular Bases of Inherited Diseases. 8. Auflage. New York: McGraw-Hill; 2001. pp. 2165–2193. [Google Scholar]
  7. Fukao T., Kodama A., Aoyanagi N., Tsukino R., Uemura S., Song X.Q., Kondo N. Mild form of beta-ketothiolase deficiency (mitochondrial acetoacetyl-CoA thiolase deficiency) in two Japanese siblings: Identification of detectable residual activity and cross-reactive material in EB-transformed lymphocytes. Clin Genet. 1996;50:263–266. doi: 10.1111/j.1399-0004.1996.tb02641.x. [DOI] [PubMed] [Google Scholar]
  8. Giacoia G.P., Berry G.T. Acrodermatitis enteropathica-like syndrome secondary to isoleucine deficiency during treatment of maple syrup urine disease. Am J Dis Child. 1993;147:954–956. doi: 10.1001/archpedi.1993.02160330044015. [DOI] [PubMed] [Google Scholar]
  9. Grünert S. Isovalerianazidämie — Klinik, Pathobiochemie und Therapie am Beispiel von 28 Patienten. Freiburg: Albert-Ludwigs-Universität Freiburg; 2004. [Google Scholar]
  10. Karall D. Therapie akuter metabolischer Krisen. In: Paschke E., Plecko-Startinig B., editors. Angeborene Stoffwechselerkrankungen: Diagnostik und Management in Akutsituationen. Heilbronn: SPS Verlagsgesellschaft mbH; 2006. [Google Scholar]
  11. Krieger I., Tanaka K. Therapeutic effects of glycine in isovaleric acidemia. Pediatr Res. 1976;10:25–29. doi: 10.1203/00006450-197601000-00005. [DOI] [PubMed] [Google Scholar]
  12. Lang F. Empfehlungen für die Eiweißzufuhr der DGE 1985 und 1991. In: Müller E., editor. Praktische Diätetik in der Pädiatrie. 1. Auflage. Heilbronn: SPS Publications; 2003. p. 305. [Google Scholar]
  13. Leonard J.V., Morris A.A. Diagnosis and early management of inborn errors of metabolism presenting around the time of birth. Acta Paediatr. 2006;95:6–14. doi: 10.1080/08035250500349413. [DOI] [PubMed] [Google Scholar]
  14. Mitchell G.A., Fukao T. Inborn errors of ketone body metabolism. In: Scriver C.R., Beaudet A.L., Sly W.S., Valle D., editors. The Metabolic and Molecular Bases of Inherited Diseases. 8. Auflage. New York: McGraw-Hill; 2001. pp. 2327–2356. [Google Scholar]
  15. Mönch E., Link R. Diagnostik und Therapie bei angeborenen Stoffwechselstörungen. 2. Auflage. Heilbronn: SPS Verlagsgesellschaft; 2006. [Google Scholar]
  16. Müller E. Praktische Diätetik in der Pädiatrie. 1. Auflage. Heilbronn: SPS Verlagsgesellschaft; 2003. [Google Scholar]
  17. Naglak M., Salvo R., Madsen K., Dembure P., Elsas L. The treatment of isovaleric acidemia with glycine supplement. Pediatr Res. 1988;24:9–13. doi: 10.1203/00006450-198807000-00004. [DOI] [PubMed] [Google Scholar]
  18. Podebrad F., Heil M., Reichert S., Mosandl A., Sewell A.C., Böhles H. 4,5-dimethyl-3-hydroxy-2[5H]-furanone (sotolone) — the odour of maple syrup urine disease. J Inherit Metab Dis. 1999;22:107–114. doi: 10.1023/a:1005433516026. [DOI] [PubMed] [Google Scholar]
  19. Prietsch V., Lindner M., Zschocke J., Nyhan W.L., Hoffmann G.F. Emergency management of inherited metabolic diseases. J Inherit Metab Dis. 2002;25:531–546. doi: 10.1023/a:1022040422590. [DOI] [PubMed] [Google Scholar]
  20. Rehner G., Daniel H. Biochemie der Ernährung. Heidelberg Berlin: Spektrum Akademischer Verlag; 1999. [Google Scholar]
  21. Roe C.R., Hoppel C.L., Stacey T.E., Chalmers R.A., Tracey B.M., Millington D.S. Metabolic response to carnitine in methylmalonic aciduria. Arch Dis Child. 1983;58:916–920. doi: 10.1136/adc.58.11.916. [DOI] [PMC free article] [PubMed] [Google Scholar]
  22. Roe C.R., Millington D.S., Maltby D.A., Bohan T.P. L-Carnitine enhances excretion of propionyl coenzyme A as prpionylcarnitine in propionic academia. J Clin Invest. 1984;73:1785–1788. doi: 10.1172/JCI111387. [DOI] [PMC free article] [PubMed] [Google Scholar]
  23. Sass J.O., Hofmann M., Skladal D., Mayatepek E., Schwahn B., Sperl W. Propionic acidemia revisited — a workshop report. Clin Pediatr. 2004;43:837–843. doi: 10.1177/000992280404300908. [DOI] [PubMed] [Google Scholar]
  24. Saudubray J.M., Poggi-Travert F., Martin D. Management and long-term follow-up of organic acidurias: criteria for therapeutic decisions. J Inherit Metab Dis. 1996;12:9–18. [Google Scholar]
  25. Sweetman L., Williams J.C. Branched Chain Organic acidurias. In: Scriver C.R., Beaudet A.L., Sly W.S., Valle D., editors. The Metabolic and Molecular Bases of Inherited Diseases. 8. Auflage. New York: McGraw-Hill; 2001. pp. 2125–2193. [Google Scholar]
  26. Thompson G.N., Chalmers R.A., Walter J.H., Bresson J.L., Lyonnet S.L., Reed P.J., Saudubray J.M., Leonard J.V., Halliday D. The use of metronidazole in management of methylmalonic and propionic acidemias. Eur J Pediatr. 1990;149:792–796. doi: 10.1007/BF01957284. [DOI] [PubMed] [Google Scholar]
  27. Wolff J.A., Caroll J.E., Thuy L.P., Prodanos C., Haas R., Nyhan W.L. Carnitine reduces fasting ketogenesis in patients with disorders of propionate metabolism. Lancet. 1986;1:289–291. doi: 10.1016/s0140-6736(86)90826-3. [DOI] [PubMed] [Google Scholar]

Literaturverzeichnis

  1. Mönch E., Link R. Diagnostik und Therapie bei angeborenen Stoffwechselstörungen. Heilbronn: SPS Publ.; 2006. [Google Scholar]
  2. Brusilow S.W., Horwich A.L. Urea Cycle Enzymes. In: Scriver C.R., Beaudet A.L., Valle D., Sly W.S., Vogelstein B., Childs B., Kinzler K.W., editors. The Metabolic and Molecular Bases of Inherited Disease. New York: McGraw-Hill; 2001. pp. 1909–1963. [Google Scholar]
  3. Bachmann C. Inherited Hyperammonemias. In: Blau N., Duran M., Blaskovics M.E., Gibson K.M., editors. Physician’s Guide to the Laboratory Diagnosis of Metabolic Diseases. Berlin, Heidelberg, New York: Springer; 2003. [Google Scholar]
  4. Leonard J.V. Disorders of the urea cycle and related enzymes. In: Fernandes J., Saudubray J.-M., Van den Berghe G., editors. Inborn Metabolic Diseases. Berlin, Heidelberg, New York: Springer; 2006. [Google Scholar]
  5. Müller E. Harnstoffzyklusstörungen. In: Müller E., editor. Praktische Diätetik in der Pädiatrie. Grundlagen für die Ernährungstherapie. Heilbronn: SPS Verlagsgesellschaft; 2003. pp. 89–94. [Google Scholar]
  6. Berry G.T., Steiner R.D. Long-term management of patients with urea cycle disorders. J Pediatr. 2001;138:56–61. doi: 10.1067/mpd.2001.111837. [DOI] [PubMed] [Google Scholar]
  7. Bachmann C. Long-term outcome of patients with urea cycle disorders and the question of neonatal screening. Eur J Pediatr. 2003;162(Suppl 1):29–33. doi: 10.1007/s00431-003-1347-z. [DOI] [PubMed] [Google Scholar]
  8. Hauser E.R., Finkelstein J.E., Valle D., Brusilow S.W. Allopurinol induced orotidinuria. A test for mutations at the ornithine carbamoyltransferase locus in women. N Engl J Med. 1990;322:1641–1645. doi: 10.1056/NEJM199006073222305. [DOI] [PubMed] [Google Scholar]
  9. Grünewald S., Fairbanks L., Genet S., Cranston T., Hüsing J., Leonard J.V., Champion M.P. How reliable is the allopurinol load in detecting carriers for ornithine transcarbamylase deficiency? J Inher Metab Dis. 2004;27:179–186. doi: 10.1023/B:BOLI.0000028727.77454.bd. [DOI] [PubMed] [Google Scholar]
  10. Horslen S.P., McCowan T.C., Goertzen T.C., Warkentin P.I., Cai H.B., Strom S.C., Fox I.J. Isolated hepatocyte transplantation in an infant with a severe urea cycle disorder. Pediatrics. 2003;111:1262–1267. doi: 10.1542/peds.111.6.1262. [DOI] [PubMed] [Google Scholar]
  11. McBridge K.L., Miller G., Carter S., Goss J., Lee B. Development outcome in early liver transplantation for urea cycle disorders. J Inher Metab Dis. 2003;26(Suppl. 2):77. [Google Scholar]
  12. Bachmann C., Häberle J., Leonard J., editors. Pathophysiology and Management of Hyperammonaemia, Symposia Proceedings. Heilbronn: SPS Verlagsgesellschaft; 2007. [Google Scholar]

Literaturverzeichnis

  1. Mönch E., Link R. Diagnostik und Therapie bei angeborenen Stoffwechselstörungen. Heilbronn: SPS Publ.; 2006. [Google Scholar]
  2. Valle D., Simell O. The Hyperornithinemias. In: Scriver C.R., Beaudet A.L., Valle D., Sly W.S., Vogelstein B., Childs B., Kinzler K.W., editors. The Metabolic and Molecular Bases of Inherited Disease. New York: McGraw-Hill; 2001. pp. 1857–1859. [Google Scholar]
  3. Rodes M., Ribes A., Pineda M., Alvarez L., Fabregas I., Fernandez-Alvarez E., Coude F.X., Grimber G. A new family affected by the syndrome of Hyperornithinaemia, Hyperammonaemia and Homocitrullinuria. J Inher Metab Dis. 1987;10:73–81. doi: 10.1007/BF01799492. [DOI] [PubMed] [Google Scholar]
  4. Fecarotta S., Parenti G., Vajro P., Zuppaldi A., Della Casa R., Carbone M.T., Correra A., Torre G., Riva S., Dionisi-Vici C., Santorelli F.M., Andria G. HHH syndrome (hyperornithinaemia, hyperammonaemia, homocitrullinuria), with fulminant hepatitis-like presentation. J Inher Metab Dis. 2006;29:186–189. doi: 10.1007/s10545-006-0120-7. [DOI] [PubMed] [Google Scholar]

Literaturverzeichnis

  1. Mönch E., Link R. Diagnostik und Therapie bei angeborenen Stoffwechselstörungen. Heilbronn: SPS Publ.; 2006. [Google Scholar]
  2. Simell O. Lysinuric protein intolerance and other cationic aminoacidurias. In: Scriver C.R., Beaudet A.L., Valle D., Sly W.S., Vogelstein B., Childs B., Kinzler K.W., editors. The Metabolic and Molecular Bases of Inherited Disease. New York: McGraw-Hill; 2004. [Google Scholar]
  3. Simell O., Parto K., Näntö-Salonen K. Transport defects of amino acids at the cell Membrane: Cystinuria, Hartnup Disease, and lysinuric protein intolerance. In: Fernandes J., Saudubray J.M., v. d. Berghe G., editors. Buchborn Metabolic Diseases. Diagnosis and Treatment. Berlin: Springer; 2000. pp. 269–282. [Google Scholar]
  4. Gursel T., Kocak U., Tumer L., Hasanoglu A. Bone marrow hemophagocytosis and immunological abnormalities in a patient with lysinuric protein intolerance. Acta Haematol. 1997;98:160–162. doi: 10.1159/000203612. [DOI] [PubMed] [Google Scholar]
  5. Mannucci L., Emma F., Markert M., Bachmann C., Boulat O., Carrozzo R., Rizzoni, Dionisi-Vici C. Increased NO production in lysinuric protein intolerance. J Inher Metab Dis. 2005;28:123–129. doi: 10.1007/s10545-005-5954-x. [DOI] [PubMed] [Google Scholar]
  6. Mizutani N., Kato T., Maehara M., Watanabe K., Ban M. Oral administration of arginine and citrulline in the treatment of lysinuric protein intolerance. Tohoku J Exp Med. 1984;142:15–24. doi: 10.1620/tjem.142.15. [DOI] [PubMed] [Google Scholar]
  7. Gómez L., Garcia-Cazola A., Gutiérrez A., Artuch R., Varea V., Martin J., Pinllos S., Vilaseca M.A. Treatment of severe osteoporosis with alendronate in a patient with lysinuric protein intolerance. J Inher Metab Dis. 2006;20:587. doi: 10.1007/s10545-006-0236-9. [DOI] [PubMed] [Google Scholar]

Literaturverzeichnis

  1. Amari A., Dahlquist L., Kossoff E.H., Vining E.P., Trescher W.H., Slifer K.J. Children with seizures exhibit preferences for foods compatible with the ketogenic diet. Epilepsy Behav. 2007;11:98–104. doi: 10.1016/j.yebeh.2007.04.005. [DOI] [PubMed] [Google Scholar]
  2. Baumeister F.A.M. Ketogene Diät. Heilbronn: SPS Publications; 2004. [Google Scholar]
  3. Begley D.J., Brightman M.W. Structural and functional aspects of blood-brain barrier. Prog Drug Research. 2003;61:41–78. doi: 10.1007/978-3-0348-8049-7_2. [DOI] [PubMed] [Google Scholar]
  4. Berg A.T., Kelly M.M. Defining Intractability: comparisons among published definitions. Epilepsia. 2006;47:431–436. doi: 10.1111/j.1528-1167.2006.00440.x. [DOI] [PubMed] [Google Scholar]
  5. Best T.H., Franz D.N., Gilbert D.L., Nelson D.P., Epstein M.R. Cardiac complications in pediatric patients on ketogenic diet. Neurology. 2000;54:2328–2830. doi: 10.1212/wnl.54.12.2328. [DOI] [PubMed] [Google Scholar]
  6. Bough K.J., Rho J.M. Anticonvulsant mechanisms of the ketogenic diet. Epilepsia. 2007;48:43–58. doi: 10.1111/j.1528-1167.2007.00915.x. [DOI] [PubMed] [Google Scholar]
  7. Brodie M.J., Kwan P. Staged approach to epilepsy management. Neurology. 2002;58:S2–S8. doi: 10.1212/wnl.58.8_suppl_5.s2. [DOI] [PubMed] [Google Scholar]
  8. Camfield P., Camfield C. The frequency of intractable seizures after stopping AEDs in seizure-free children with epilepsy. Neurology. 2005;64:973–975. doi: 10.1212/01.WNL.0000154517.82748.A7. [DOI] [PubMed] [Google Scholar]
  9. D.A_CH . Referenzwerte für die Nährstoffzufuhr. Frankfurt am Main: Umschau Braus; 2001. [Google Scholar]
  10. De Vivo D.C., Trifiletti R.R., Jacobson R.I., Ronen G.M., Behmand R.A., Harik S.I. Defective glucose transport across the blood-brain barrier as a cause of persistent hypoglycorrhachia, seizures, and developmental delay. N Engl J Med. 1991;325:703–709. doi: 10.1056/NEJM199109053251006. [DOI] [PubMed] [Google Scholar]
  11. Freeman J.M., Kossoff E.H., Hartman A.L. The ketogenic diet: one decade later. Pediatrics. 2007;119:535–543. doi: 10.1542/peds.2006-2447. [DOI] [PubMed] [Google Scholar]
  12. Furth S.L., Casey J.C., Pyzik P.L., Neu A.M., Docino S.G., Vining E.P.G., Freeman J.M., Fivush B.A. Risk factors for urolithiasis in children on ketogenic diet. Ped Nephrol. 2000;15:125–128. doi: 10.1007/s004670000443. [DOI] [PubMed] [Google Scholar]
  13. Gasior M., French A., Joy M.T., Tang R.S., Hartman A.L., Rogawski M.A. The anticonvulsant activity of acetone, the major ketone body in the ketogenic diet, is not dependent on its metabolites acetol, 1,2-propanediol, methylglyoxal, or pyruvic acid. Epilepsia. 2007;48:793–800. doi: 10.1111/j.1528-1167.2007.01026.x. [DOI] [PubMed] [Google Scholar]
  14. Gilbert D.L., Pyzik P.L., Freeman J.M. The ketogenic diet: seizure control correlates better with serum β-OH butyrate levels than with urine ketones. J Child Neurol. 2000;15:787–790. doi: 10.1177/088307380001501203. [DOI] [PubMed] [Google Scholar]
  15. Guzmán M., Blázquez C. Is there an astrocyte-neuron ketone body shuttle? TRENDS in Endocrinology & metabolism. 2001;12:169–173. doi: 10.1016/s1043-2760(00)00370-2. [DOI] [PubMed] [Google Scholar]
  16. Hartman A.L., Vining E.P. Clinical aspects of the ketogenic diet. Epilepsia. 2007;48:31–42. doi: 10.1111/j.1528-1167.2007.00914.x. [DOI] [PubMed] [Google Scholar]
  17. Hallböök T., Lundgren J., Rosén I. Ketogenic diet improves sleep quality in children with therapy-resistent epilepsy. Epilepsia. 2007;48:59–65. doi: 10.1111/j.1528-1167.2006.00834.x. [DOI] [PubMed] [Google Scholar]
  18. Huffman J., Kossoff E.H. State of ketogenic diet(s) in epilepsy. Curr Neurology Neuroscience Report. 2006;6:332–340. doi: 10.1007/s11910-006-0027-6. [DOI] [PubMed] [Google Scholar]
  19. Huttenlocher P.R. Ketonemia and seizures: metabolic and anticonvulsant effects of two ketogenic diets in childhood epilepsy. Pediatr Res. 1976;10:536–540. doi: 10.1203/00006450-197605000-00006. [DOI] [PubMed] [Google Scholar]
  20. Klepper J., Leiendecker B. GLUT1 deficiency syndrome — 2007 update. Develop Med Child Neurolog. 2007;49:707–716. doi: 10.1111/j.1469-8749.2007.00707.x. [DOI] [PubMed] [Google Scholar]
  21. Klepper J., Leiendecker B. Die ketogene Diät bei Störungen des zerebralen Energiestoffwechsels. Ernährungs-Umschau. 2003;50:487–491. [Google Scholar]
  22. Klepper J., Ecker D., Burkart P., Leiendecker B., Voit T., Baumeister F.A.M. Indikation und Anwendung der ketogenen Diät im Kindesalter. Monatsschr Kinderheilkd. 2001;149:1383–1390. [Google Scholar]
  23. Kossoff E.H. More fat and fewer seizures: dietary therapy for epilepsy. Lancet Neurol. 2004;3:415–420. doi: 10.1016/S1474-4422(04)00807-5. [DOI] [PubMed] [Google Scholar]
  24. Kossoff E.H., Thiele E.A., Pfeiffer H.H., McGrogan J.R., Freemann J.M. Tuberous sclerosis complex and ketogenic diet. Epilepsia. 2005;46:1684–1686. doi: 10.1111/j.1528-1167.2005.00266.x. [DOI] [PubMed] [Google Scholar]
  25. Kossoff E.H., McGrogan J.R., Bluml R.M., et al. A modified Atkins diet is effective for the treatment of intractable pediatric epilepsy. Epilepsia. 2006;47:421–424. doi: 10.1111/j.1528-1167.2006.00438.x. [DOI] [PubMed] [Google Scholar]
  26. Kossoff E.H., Turner Z., Bergey G.K. Home-guided use of the ketogenic diet in a patient for more than 20 years. Pediatr Neurol. 2007;36:424–425. doi: 10.1016/j.pediatrneurol.2007.01.013. [DOI] [PubMed] [Google Scholar]
  27. Kossoff E.H., Laux L.C., Blackford R., Morrison P.F., Pyzik P.L., Hamdy R.M., Turner Z., Nordli D.R. When do seizures usually improve with the ketogenic diet? Epilepsia. 2008;49:329–333. doi: 10.1111/j.1528-1167.2007.01417.x. [DOI] [PubMed] [Google Scholar]
  28. Kossoff E.H., Rowley H., Sinha S.R., Vining E.P.G. A prospective study of the modified Atkins diet for intractable epilepsy in adults. Epilepsia. 2008;49:316–319. doi: 10.1111/j.1528-1167.2007.01256.x. [DOI] [PubMed] [Google Scholar]
  29. Kwiterovich P.O., Vining E.P.G., Pyzik P., Skolasky R., Freeman J.M. Effect of a high-fat ketogenic diet on plasma levels of lipids, lipoproteins, and apolipoproteins in children. JAMA. 2003;290:912–920. doi: 10.1001/jama.290.7.912. [DOI] [PubMed] [Google Scholar]
  30. Lefevre F., Aronson N. Ketogenic diet for the treatment of refractory epilepsy in children: a systematic review of efficacy. Pediatrics. 2000;105:e46. doi: 10.1542/peds.105.4.e46. [DOI] [PubMed] [Google Scholar]
  31. Mady M.A., Kossoff E.H., McGregor A.L., Wheless J.W., Pyzik P.L., Freeman J.M. The ketogenic diet: adolescents can do it, too. Epilepsia. 2003;44:847–851. doi: 10.1046/j.1528-1157.2003.57002.x. [DOI] [PubMed] [Google Scholar]
  32. Mavropoulos J.C., Yancy W.S., Hepburn J., Westman E.C. The effects of a low carbohydrate, ketogenic diet on the polycystic ovary syndrome: a pilot study. Nutr Metab (Lond) 2005;2:35. doi: 10.1186/1743-7075-2-35. [DOI] [PMC free article] [PubMed] [Google Scholar]
  33. Martinez C.C., Pyzik P.L., Kossoff E.H. Discontinuing the ketogenic diet in seizure-free children: recurrence and risk factors. Epilepsia. 2007;48:187–190. doi: 10.1111/j.1528-1167.2006.00911.x. [DOI] [PubMed] [Google Scholar]
  34. Musa-Veloso K., Likhodii S.S., Cunnane S.C. Breath acetone is a reliable indicator of ketosis in adults consuming ketogenic meals. Am J Clin Nutr. 2002;76:65–70. doi: 10.1093/ajcn/76.1.65. [DOI] [PubMed] [Google Scholar]
  35. Nordli D.R., Kuroda M.M., Carroll J., Koenigsberger D.Y., Hirsch L.J., Bruner H.J., Seidel W.T., De Vivo D.C. Experience with ketogenic diet in infants. Pediatrics. 2001;108:129–133. doi: 10.1542/peds.108.1.129. [DOI] [PubMed] [Google Scholar]
  36. Owen O.E., Morgan A.P., Kemp H.G., Sullivan J.M., Herrera M.G., Cahill G.F., Jr Brain metabolism during fasting. J Clin Invest. 1967;46:1589–1595. doi: 10.1172/JCI105650. [DOI] [PMC free article] [PubMed] [Google Scholar]
  37. Sankar R., Sotero de Menezes M. Metabolic and endocrine aspects of the ketogenic diet. Epilepsy research. 1999;37:191–200. doi: 10.1016/s0920-1211(99)00071-6. [DOI] [PubMed] [Google Scholar]
  38. Seyfried T.N., Mukherjee P. Targeting energy metabolism in brain cancer: review and hypothesis. Nutrition Metabolism. 2005;2:30. doi: 10.1186/1743-7075-2-30. [DOI] [PMC free article] [PubMed] [Google Scholar]
  39. Stöckler-Ipsiroglu S., Feucht M., Hauser E., Meyer B. Die ketogene Diät bei pharmakoresistenter Epilepsie. Mitteilungen der Österreichischen Sektion der Internationalen Liga gegen Epilepsie. 2005;5:23–26. [Google Scholar]
  40. Swobada K.J., Specht L., Jones H.R., Shapiro F., DiMauro S., Korson M. Infantile phosphofruktokinase deficiency with arthrogryposis: clinical benefit of a ketogenic diet. J Pediatr. 1997;131:932–934. doi: 10.1016/s0022-3476(97)70048-9. [DOI] [PubMed] [Google Scholar]
  41. Wheless J.W. The ketogenic diet: an effective medical therapy with side effects. J Child Neurology. 2001;16:633–635. doi: 10.1177/088307380101600901. [DOI] [PubMed] [Google Scholar]
  42. Wheless J.W., Baumgartner J., Ghanbari C. Vagus nerve stimulation and ketogenic diet. Neurol Clin North Am. 2001;19:371–407. doi: 10.1016/s0733-8619(05)70023-2. [DOI] [PubMed] [Google Scholar]

Literaturverzeichnis

  1. Ames B.N. Low micronutrient intake may accelerate the degenerative diseases of aging through allocation of scarce micronutrients by triage. Proc Natl Acad Sci USA. 2006;103:17589–17594. doi: 10.1073/pnas.0608757103. [DOI] [PMC free article] [PubMed] [Google Scholar]
  2. Arts W.F., Scholte H.R., Bogaard J.M., Kerreblin K.F., Luyt-Houwen I.E. NADH-CoQ reductase deficient myopathy: successful treatment with riboflavin 1983. Lancet. 1983;2:581–582. doi: 10.1016/s0140-6736(83)90618-9. [DOI] [PubMed] [Google Scholar]
  3. Barbiroli B., Medori R., Tritschler H.J., Klopstock T., Seibel P., Reichmann H., Iotti S., Lodi R., Zaniol P. Lipoic (thioctic) acid increases brain energy availability and skeletal muscle performance as shown by in vivo 31P-MRS in a patient with mitochondrial cytopathy. J Neurol. 1995;242:472–477. doi: 10.1007/BF00873552. [DOI] [PubMed] [Google Scholar]
  4. Bastin J., Aubey F., Rötig A., Muinnich A., Djouadi F. Activation of peroxisome proliferator-activated receptor pathway stimulates the mitochondrial respiratory chain and can correct deficiencies in patients’ cells lacking its components. J Clin Endocrinol Metab. 2008;93(4):1433–1441. doi: 10.1210/jc.2007-1701. [DOI] [PubMed] [Google Scholar]
  5. Baumeister F.A.M. Ketogene Diät. Ernährung als Therapiestrategie. Heilbronn: SPS-Verlagsgesellschaft; 2004. [Google Scholar]
  6. Berger A., Mayr J.A., Meierhofer D., Foetschl U., Bittner R., Budka H., Grethen C., Huemer M., Kofler B., Sperl W. Severe depletion of mitochondrial DNA in spinal muscular atrophy. Acta Neuropathol. 2003;105:245–51. doi: 10.1007/s00401-002-0638-1. [DOI] [PubMed] [Google Scholar]
  7. Bernier F.P., Boneh A., Dennett X., Chow C.W., Cleary M.A., Thorburn D.R. Diagnostic criteria for respiratory chain disorders in adults and children. Neurology. 2002;59:1406–1411. doi: 10.1212/01.wnl.0000033795.17156.00. [DOI] [PubMed] [Google Scholar]
  8. Bernsen P.L., Gabreels F.J., Ruitenbeek W., Hamburger H.L. Treatment of complex I deficiency with riboflavin. J Neurol Sci. 1993;118:181–187. doi: 10.1016/0022-510x(93)90108-b. [DOI] [PubMed] [Google Scholar]
  9. Brown R.M., Ridout C.K., Lee J., Cozens A., Brown G. Thiamine responsive pyruvate dehydrogenase deficiency. J Inher Metab Dis. 2007;30(Suppl 1):76. [Google Scholar]
  10. Butt A.A. Fatal lactic acidosis and pancreatitis associated with ribavirin and didanosine therapy. Aids Read. 2003;13:344–348. [PubMed] [Google Scholar]
  11. Buyse G., Mertens L., Di Salvo G., Matthijs I., Weidemann F., Eyskens B., Goossens W., Goemans N., Sutherland G.R., Van Hove J.L.K. Idebenone treatment in Friedreichs ataxia. Neurological, cardiac, and biochemical monitoring. Neurol. 2003;60:1679–1681. doi: 10.1212/01.wnl.0000068549.52812.0f. [DOI] [PubMed] [Google Scholar]
  12. Campos Y, Huertas R, Lorenzo G, Bautista J, Gutierrez E, Aparicio M, Alesso L, Arenas J. Plasma carnitine insufficiency and effectiveness of L-carnitine therapy in patients with mitochondrial myopathy (1993) Muscle Nerve 16: 150–153 [DOI] [PubMed]
  13. Casari G., De Fusco M., Ciarmatori S., Zeviani M., Mora M., Fernandez P., De Michaele G., Filla A., Cocuzza S., Marconi R., Durr A., Fontaine B., Ballabio A. Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease. Cell. 1998;93:973–983. doi: 10.1016/s0092-8674(00)81203-9. [DOI] [PubMed] [Google Scholar]
  14. Cote H.C.F. Possible ways nucleoside analogues can affect mitochondrial DNA content and gene expression during HIV therapy. Antiviral Therapy. 2005;10(Suppl 2):M3–M11. [PubMed] [Google Scholar]
  15. D’Souza G.G., Rammohan R., Cheng S.M., Torchilin V.P., Weissig V. DQAsome-mediated delivery of plasmid DNA toward mitochondria in living cells. J Control Release. 2003;92:189–197. doi: 10.1016/s0168-3659(03)00297-9. [DOI] [PubMed] [Google Scholar]
  16. DiMauro S., Hirano M., Schon E.A. Approaches to the treatment of mitochondrial diseases. Muscle Nerve. 2006;34:265–283. doi: 10.1002/mus.20598. [DOI] [PubMed] [Google Scholar]
  17. Eleff S., Kennaway N.G., Buist N.R., Darley-Usmar V.M., Capaldi R.A., Bank W.J., Chance B. 31P NMR study of improvement in oxidative phosphorylation by vitamins K3 and C in a patient with a defect in electron transport at complex III in skeletal muscle. Proc Natl Acad Sci U S A. 1984;81:3529–3533. doi: 10.1073/pnas.81.11.3529. [DOI] [PMC free article] [PubMed] [Google Scholar]
  18. Freisinger P., Horvath R., Macmillan C., Peters J., Jaksch M. Reversion of hypertrophic cardiomyopathy in a patient with deficiency of the mitochondrial copper binding protein Sco2: is there a potential effect of copper? J Inher Metab Dis. 2004;27:67–79. doi: 10.1023/B:BOLI.0000016614.47380.2f. [DOI] [PubMed] [Google Scholar]
  19. Gold D.R., Cohen B.H. Treatment of mitochondrial cytopathies. Semin Neurol. 2001;21:309–325. doi: 10.1055/s-2001-17948. [DOI] [PubMed] [Google Scholar]
  20. Graff C., Clayton D.A., Larsson N.G. Mitochondrial medicine-recent advances. J Internal Med. 1999;246:11–23. doi: 10.1046/j.1365-2796.1999.00514.x. [DOI] [PubMed] [Google Scholar]
  21. Haas R.H., Parikh S., Falk M.J., Saneto R.P., Wolf N.I., Darin N., Cohen B.H. Mitochondrial Disease: A Practical Approach for Primary Care Physicians. Pediatrics. 2007;120:1326–1333. doi: 10.1542/peds.2007-0391. [DOI] [PubMed] [Google Scholar]
  22. Haas R.H., Parikh S., Falk M.J., Saneto R.P., Wolf N.I., Darin N., Wong L.-J., Cohen B.H., Naviaux R.K. The in-depth evaluation of suspected mitochondrial disease. Molecular Genetics and Metabolism. 2008;94:16–37. doi: 10.1016/j.ymgme.2007.11.018. [DOI] [PMC free article] [PubMed] [Google Scholar]
  23. Jaksch M., Paret C., Stucka R., Horn N., Müller-Höcker J., Horvath R., Trepesch N., Stecker G., Freisinger P., Thirion C., Müller J., Lunkwitz R., Rödel G., Shoubridge E.A., Lochmüller H. Cytochrome c oxidase deficiency due to mutations in SCO2, encoding a mitochondrial copper-binding protein, is rescued by copper in human myoblasts. Hum Mol Genet. 2001;10:3025–3035. doi: 10.1093/hmg/10.26.3025. [DOI] [PubMed] [Google Scholar]
  24. Kaufmann P., Engelstad K., Wei Y.-H., Sano M.C., Shungu D., Millar W.S., Hong X., Gooch C.L., Mao X., Pascual J.M., Hirano M., Stacpoole P.W., DiMauro S., De Vivo D.C. Dichloroacetate causes toxic neuropathy in MELAS: a randomized, controlled clinical trial. Neurology. 2006;66:324–330. doi: 10.1212/01.wnl.0000196641.05913.27. [DOI] [PubMed] [Google Scholar]
  25. Kaufmann P., Shungu D., Sano M.C., Jung S., Engelstad K., Mitsis E., Mao X., Shanske S., Hirano M., DiMauro S., De Vivo D.C. Cerebral lactic acidosis correlates with neurological impairment in MELAS. Neurol. 2004;62:1297–1302. doi: 10.1212/01.wnl.0000120557.83907.a8. [DOI] [PubMed] [Google Scholar]
  26. Klepper J., Leiendecker B., Bredahl R., Athanassopoulos S., Heinen F., Gertsen E., Flörcken A., Metz A., Voit T. Introduction of a ketogenic diet in young infants. J Inherit Metab Dis. 2002;25:449–460. doi: 10.1023/a:1021238900470. [DOI] [PubMed] [Google Scholar]
  27. Klopstock T., Schlamp V., Schmidt F., Gekeler F., Hartard M., Pongratz D., Walter M., Gasser T., Straube A., Dieterich M., Muller-Felber W. Creatine monohydrate in mitochondrial diseases: a double-blind, placebo-controlled, cross-over study in 16 patients with progressive external ophthalmoplegia or mitochondrial myopathy. Neurology. 1999;52(Suppl 2):A543–A544. [Google Scholar]
  28. Koga Y., Akita Y., Nishioka J., Yatsuga S., Povalko N., Tanabe Y., Fujimoto S., Matsuishi T. L-arginine improves the symptoms of strokelike episodes in MELAS. Neurology. 2005;64:710–712. doi: 10.1212/01.WNL.0000151976.60624.01. [DOI] [PubMed] [Google Scholar]
  29. Kolesnikova O.A., Entelis N.S., Jacquin-Becker C., Goltzene F., Chrzanowska-Lightowlers Z.M., Lightowlers R.N., Martin R.P., Tarassov I. Nuclear DNA-encoded tRNAs targeted into mitochondria can rescue a mitochondrial DNA mutation associated with the MERRF syndrome in cultured human cells. Hum Mol Genet. 2004;13:2519–2534. doi: 10.1093/hmg/ddh267. [DOI] [PubMed] [Google Scholar]
  30. Kolker S., Schwab M., Horster F., Sauer S., Hinz A., Wolf N.I., Mayatepek E., Hoffmann G.F., Smeitink J.A., Okun J.G. Methylmalonic acid, a biochemical hallmark of methylmalonic acidurias but no inhibitor of mitochondrial respiratory chain. J Biol Chem. 2003;278:47388–47393. doi: 10.1074/jbc.M308861200. [DOI] [PubMed] [Google Scholar]
  31. Komura K., Hobbiebrunken E., Wilichowski E.K.G., Hanefeld F.A. Effectiveness of creatine monohydrate in mitochondrial encephalomyopathies. Pediatr Neurol. 2003;28:53–58. doi: 10.1016/s0887-8994(02)00469-1. [DOI] [PubMed] [Google Scholar]
  32. Lee W.S., Sokol R.J. Mitochondrial hepatopathies: advances in genetics and pathogenesis. Hepatology. 2007;45:1555–1565. doi: 10.1002/hep.21710. [DOI] [PMC free article] [PubMed] [Google Scholar]
  33. Lou H.C. Correction of increased plasma pyruvate and plasma lactate levels using large doses of thiamine in patients with Kearns-Sayre syndrome. Arch Neurol. 1981;38:469. doi: 10.1001/archneur.1981.00510070103027. [DOI] [PubMed] [Google Scholar]
  34. Luft R. The development of mitochondrial medicine. Biochemica Biophysica Acta. 1995;1271:1–6. doi: 10.1016/0925-4439(95)00002-l. [DOI] [PubMed] [Google Scholar]
  35. Manfredi G., Fu J., Ojaimi J., Sadlock J.E., Kwong J.Q., Guy J., Shon E.A. Rescue of a deficiency in ATP synthesis by transfer of MTATP6, a mitochondrial DNA-encoded gene, to the nucleus. Nature Genet. 2002;30:394–399. doi: 10.1038/ng851. [DOI] [PubMed] [Google Scholar]
  36. Mariotti C., Solari A., Torta D., Marano L., Fiorentini C., Di Donato S. Idebenone treatment in Friedreich patients: One-year-long randomized placebo-controlled trial. Neurol. 2003;60:1676–1679. doi: 10.1212/01.wnl.0000055872.50364.fc. [DOI] [PubMed] [Google Scholar]
  37. Marriage B., Clandinin M.T., Glerum D.M. Nutritional cofactor treatment in mitochondrial disorders. J Am Diet Assoc. 2003;103:1029–1038. doi: 10.1016/s0002-8223(03)00476-0. [DOI] [PubMed] [Google Scholar]
  38. Marriage B.J., Clandinin M.T., Macdonald I.M., Glerum D.M. Cofactor treatment improves ATP synthetic capacity in patients with oxidative phosphorylation disorders. Mol Genet Metab. 2004;81:263–272. doi: 10.1016/j.ymgme.2003.12.008. [DOI] [PubMed] [Google Scholar]
  39. Naito E., Ito M., Takeda E., Yokota I., Yoshijima S., Kuroda Y. Molecular analysis of abnormal pyruvate dehydrogenase in a patient with thiamine-responsive congenital lactic acidemia. Pediatr Res. 1994;36:340–346. doi: 10.1203/00006450-199409000-00013. [DOI] [PubMed] [Google Scholar]
  40. Oguro H., Iijima K., Takahashi K., Nagai A., Bokura H., Yamaguchi S., Kobayashi S. Successful treatment with succinate in apatient with MELAS. Internal Medicine. 2004;43:427–431. doi: 10.2169/internalmedicine.43.427. [DOI] [PubMed] [Google Scholar]
  41. Owen R., Mandel R.J., Ammini C.V., Conlon T.J., Kerr D.S., Stacpoole P.W., Flotte T.R. Gene therapy for pyruvate dehydrogenase E1α deficiency using recombinant adeno-associated virus 2 (rAAV2) vectors. Molecular therapy. 2002;6:394–399. doi: 10.1006/mthe.2002.0683. [DOI] [PubMed] [Google Scholar]
  42. Pineda M., Ormazabal A., López-Gallardo E., Nascimento A., Solano A., Herrero M.D., Vilaseca M.A., Briones P., Ibáez L., Montoya J., Artuch R. Cerebral folate deficiency and leukoencephalopathy caused by a mitochondrial DNA deletion. Ann Neurol. 2006;59:394–398. doi: 10.1002/ana.20746. [DOI] [PubMed] [Google Scholar]
  43. Roesch K., Curran S.P., Tranebjaerg L., Koehler C.M. Human deafness dystonia syndrome is caused by a defect in assembly of the DDP1/TIMM8a-TIMM13 complex. Hum Mol Genet. 2002;11:477–486. doi: 10.1093/hmg/11.5.477. [DOI] [PubMed] [Google Scholar]
  44. Rötig A., De Lonlay P., Chretien D., Foury F., Koenig M., Sidi D., Munnich A., Rustin P. Aconitase and mitochondrial iron sulphur protein deficiency in Friedreich ataxia. Nat Genet. 1997;17:215–217. doi: 10.1038/ng1097-215. [DOI] [PubMed] [Google Scholar]
  45. Sanderson S., Green A., Preece M.A., Burton H. The incidence of inherited metabolic disorders in the West Midlands. UK. Arch Dis Child. 2006;91:896–899. doi: 10.1136/adc.2005.091637. [DOI] [PMC free article] [PubMed] [Google Scholar]
  46. Santra S., Gilkerson R.W., Davidson M., Schon E.A. Ketogenic treatment reduces deleted mitochondrial DNAs in cultured human cells. Ann Neurol. 2004;56:662–669. doi: 10.1002/ana.20240. [DOI] [PubMed] [Google Scholar]
  47. Schaefer A.M., Taylor R.W., Turnbull D.M., Chinnery P.F. The epidemiology of mitochondrial disorders — past, present and future. Biochim Biophys Acta. 2004;1659:115–120. doi: 10.1016/j.bbabio.2004.09.005. [DOI] [PubMed] [Google Scholar]
  48. Schlame M., Towbin J.A., Heerdt P.M., Jehle R., Di Mauro S., Blanck T.J. Deficiency of tetralinoleoyl-cardiolipin in Barth syndrome. Ann Neurol. 2002;51:634–637. doi: 10.1002/ana.10176. [DOI] [PubMed] [Google Scholar]
  49. Seibel P., Trappe J., Villiani G., Klopstock T., Papa S., Reichmann H. Transfection of mitochondria: strategy towards a gene therapy of mitochondrial DNA diseases. Nucleic Acids Res. 1995;23:10–17. doi: 10.1093/nar/23.1.10. [DOI] [PMC free article] [PubMed] [Google Scholar]
  50. Seo B.B., Nakamaru-Ogiso E., Cruz P., Flotte T.R., Yagi T., Matsuno-Yagi A. Functional expression of the single subunit NADH dehydrogenase in mitochondria in vivo: a potential therapy for complex I deficiency. Hum Gene Ther. 2004;15:887–895. doi: 10.1089/hum.2004.15.887. [DOI] [PubMed] [Google Scholar]
  51. Seznec H., Simon D., Monassier L., Criqui-Filipe P., Gansmuller A., Rustin P., Koenig M., Puccio H. Idebenone delays the onset of cardiac functional alteration without correction of FE-S enzymes deficit in a mouse model for Friedreich ataxia. Human Molecular Genetics. 2004;13:1017–1024. doi: 10.1093/hmg/ddh114. [DOI] [PubMed] [Google Scholar]
  52. Silva M, Pinheiro A, Eusebio F, Gaspar A, Tavares de Almeida I, Rivera I (2008) Pyruvate dehydrogenase deficiency: identification of a novel mutation in the PDHA1 gene which responds to amino acid supplementation. Eur J Pediatr [im Druck] [DOI] [PubMed]
  53. Skladal D., Halliday J., Thorburn D.R. Minimum birth prevalence of mitochondrial respiratory chain disorders in children. Brain. 2003;126:1905–1912. doi: 10.1093/brain/awg170. [DOI] [PubMed] [Google Scholar]
  54. Sperl W. Antioxidanzien und Vitamine in der Radikalbekämpfung. Arzt und Praxis. 2001;55:472–479. [Google Scholar]
  55. Sperl W., Koch J., Rauscher C., Mayr J.A. MRI findings in three patients with PDHC (E1α) deficiency and ketogenic diet. J Inher Metab Dis. 2007;30(Suppl 1):76. [Google Scholar]
  56. Sperl W., Mayr H. Mitochondriopathien im Kindesalter-Einführung in die Problematik. In: Sperl W., Freisinger P., editors. Mitochondriale Enzephalomyopathien im Kindesalter — kritische Aspekte zu Diagnostik und Therapie. Heilbronn: SPS Verlagsgesellschaft; 2004. pp. 10–26. [Google Scholar]
  57. Spinazzola A., Marti R., Nishino I., Andreu A.L., Naini A., Tadesse S., Pela I., Zammarchi E., Donati M.A., Oliver J.A., Hirano M. Altered thymidine metabolism due to defects of thymidine phosphorylase. J Biol Chem. 2002;277:4128–4133. doi: 10.1074/jbc.M111028200. [DOI] [PubMed] [Google Scholar]
  58. Stacpoole P.W., Kerr D.S., Barnes C., Bunch T.S., Carney P.R., Fenell E.M., Felitsyn N.M., Gilmore R.L., Greer M., Henderson G.N., Hutson A.D., Neiberger R.E., O’Brien R.G., Perkins L.A., Quisling R.G., Shroads A.L., Shuster J.J., Silverstein J.H., Theriaque D.W., Valenstein E. Controlled clinical trial of dichloroacetate for treatment of congenital lactic acidosis in children. Pediatrics. 2006;117:1519–1531. doi: 10.1542/peds.2005-1226. [DOI] [PubMed] [Google Scholar]
  59. Taivassalo T., Fu K., Johns T., Arnold D., Karpati G., Shoubridge E.A. Gene shifting: a novel therapy for mitochondrial myopathy. Hum Mol Genet. 1999;8:1047–1052. doi: 10.1093/hmg/8.6.1047. [DOI] [PubMed] [Google Scholar]
  60. Taivassalo T., Haller R.G. Implications of exercise training in mtDNA defects — use or lose it? Biochim Biophys Acta. 2004;1659:221–231. doi: 10.1016/j.bbabio.2004.09.007. [DOI] [PubMed] [Google Scholar]
  61. Tarnopolsky M.A., Roy B.D., MacDonald J.R. A random-ized, controlled trial of creatine monohydrate in patients with mitochondrial cytopathies. Muscle Nerve. 1997;20:1502–1509. doi: 10.1002/(sici)1097-4598(199712)20:12<1502::aid-mus4>3.0.co;2-c. [DOI] [PubMed] [Google Scholar]
  62. Taylor R.W., Chinnery P.F., Turnbull D.M., Lightowlers R.N. Selective inhibition of mutant human mitochondrial DNA replication in vitro by peptide nucleic acids. Nat Genet. 1999;15:212–215. doi: 10.1038/ng0297-212. [DOI] [PubMed] [Google Scholar]
  63. Toscano A., Fazio M.C., Vita G., Cannavo S., Bresolin N., Bet L., Prelle A., Barbiroli B., Iotti S., Zaniol P. Early onset cerebellar ataxia, myoclonus and hypogonadism in a case of mitochondrial complex III deficiency treated with vitamin K3 and C. J Neurol. 1995;242:203–209. doi: 10.1007/BF00919592. [DOI] [PubMed] [Google Scholar]
  64. Triepels R.H., van den Heuvel L.P., Loeffen J.L., Buskens C.A., Smeets R.J., Rubio Gozalbo M.E., Budde S.M., Mariman E.C., Wijburg F.A., Barth P.G., Trijbels J.M., Smeitink J.A. Leigh syndrome associated with a mutation in the NDUFS7 (PSST) nuclear encoded subunit of complex I. Ann Neurol. 1999;45:787–790. doi: 10.1002/1531-8249(199906)45:6<787::aid-ana13>3.0.co;2-6. [DOI] [PubMed] [Google Scholar]
  65. Walker U.A., Collins S., Byrne E. Respiratory chain encephalomyopathies: a diagnostic classification. Eur Neurol. 1996;36:260–267. doi: 10.1159/000117269. [DOI] [PubMed] [Google Scholar]
  66. Wexler I.D., Hemalatha S.G., McConnell J., Buist N.R., Dahl H.H., Berry S.A., Cederbaum S.D., Patel M.S., Kerr D.S. Outcome of pyruvate dehydrogenase deficiency treated with ketogenic diets. Studies in patients with identical mutations. Neurology. 1997;49:1655–1661. doi: 10.1212/wnl.49.6.1655. [DOI] [PubMed] [Google Scholar]
  67. Wilichowski E., Korenke G.C., Ruitenbeek W., De Meirleir L., Hagendorff A., Janssen A.J., Lissens W., Hanefeld F. Pyruvate dehydrogenase complex deficiency and altered respiratory chain function in a patient with Kearns-Sayre/MELAS overlap syndrome and A 3243G mtDNA mutation. J Neurol Sci. 1998;157:206–213. doi: 10.1016/s0022-510x(98)00068-9. [DOI] [PubMed] [Google Scholar]
  68. Wolf N.I., Smeitink J.A. Mitochondrial disorders. A proposal for consensus diagnostic criteria in infants and children. Neurology. 2002;59:1402–1405. doi: 10.1212/01.wnl.0000031795.91814.d8. [DOI] [PubMed] [Google Scholar]
  69. Wijburg F.A., Barth P.G., Bindoff L.A., Birch-Machin M.A., van der Blij J.F., Ruitenbeek W., Turnbull D.M., Schutgens R.B. Leigh syndrome associated with a deficiency of the pyruvate dehydrogenase complex: results of treatment with a ketogenic diet. Neuropediatrics. 1992;23:147–152. doi: 10.1055/s-2008-1071331. [DOI] [PubMed] [Google Scholar]

Literaturverzeichnis

  1. Andresen B.S., Olpin S., Poorthuis B.J., Scholte H.R., Vianey-Saban C., Wanders R., Ijlst L., Morris A., Pourfarzam M., Bartlett K., Baumgartner E.R., de Klerk J.B., Schroeder L.D., Corydon T.J., Lund H., Winter V., Bross P., Bolund L., Gregersen N. Clear correlation of genotype with disease phenotype in very long-chain acyl-CoA dehydrogenase deficiency. Am J Hum Genet. 1999;64:479–494. doi: 10.1086/302261. [DOI] [PMC free article] [PubMed] [Google Scholar]
  2. Boneh A., Andresen B.S., Gregersen N., Ibrahim M., Tzanakos N., Peters H., Yaplito-Lee J., Pitt J.J. VLCAD deficiency: Pitfalls in newborn screening and confirmation of diagnosis by mutation analysis. Mol Genet Metab. 2006;88:166–170. doi: 10.1016/j.ymgme.2005.12.012. [DOI] [PubMed] [Google Scholar]
  3. Bonnet D., Martin D., de Lonlay P., Villain E., Jouvet P., Rabier D., Brivet M., Saudubray J.M. Arrhythmias and conduction defects as presenting symptoms of fatty acid oxidation disorders in children. Circulation. 1999;100:2248–2253. doi: 10.1161/01.cir.100.22.2248. [DOI] [PubMed] [Google Scholar]
  4. Cox G.F., Souri M., Aoyama T., Rockenmacher S., Varvogli L., Rohr F., Hashimoto T., Korson M.S. Reversal of severe hypertrophic cardiomyopathy and an excellent neurophysiologic outcome in very-long-chain acyl-coenzyme A dehydrogenase deficiency. J Pediatr. 1998;133:247–253. doi: 10.1016/s0022-3476(98)70228-8. [DOI] [PubMed] [Google Scholar]
  5. Deutsche Gesellschaft für Ernährung e. V. — DGE . Referenzwerte für die Nährstoffzufuhr. Frankfurt am Main: Umschau Braus GmbH; 2000. [Google Scholar]
  6. Das A.M., Illsinger S., Lucke T., Hartmann H., Ruiter J.P., Steuerwald U., Waterham H.R., Duran M., Wanders R.J. Isolated mitochondrial long-chain ketoacyl-CoA thiolase deficiency resulting from mutations in the HADHB gene. Clin Chem. 2006;52:530–534. doi: 10.1373/clinchem.2005.062000. [DOI] [PubMed] [Google Scholar]
  7. Den Boer M.E., Wanders R.J., Morris A.A., Ijlst L., Heymans H.S., Wijburg F.A. Long-chain 3-hydoxyacyl-CoA dehydrogenase deficiency: clinical presentation and follow-up of 50 patients. Pediatrics. 2002;109:99–104. doi: 10.1542/peds.109.1.99. [DOI] [PubMed] [Google Scholar]
  8. Gillingham M.B., Weleber R.G., Neuringer M., Connor W.E., Mills M., van Calcar S., Ver Hoeve J., Wolff J., Harding C.O. Effect of optimal dietary therapy upon visual function in children with long-chain 3-hydroxyacyl CoA dehydrogenase and trifunctional protein deficiency. Mol Genet Metab. 2005;86:124–133. doi: 10.1016/j.ymgme.2005.06.001. [DOI] [PMC free article] [PubMed] [Google Scholar]
  9. Gregersen N., Andresen B.S., Corydon M.J., Corydon T.J., Olsen R.K., Bolund L., Bross P. Mutation analysis in mitochondrial fatty acid oxidation defects: exemplified by acyl-CoA dehydrogenase deficiencies, with special focus on genotype-phenotype relationship. Hum Mutat. 2001;18:169–189. doi: 10.1002/humu.1174. [DOI] [PubMed] [Google Scholar]
  10. Liebig M., Schymik I., Mueller M., Wendel U., Mayatepek E., Ruiter J., Strauss A.W., Wanders R.J., Spiekerkoetter U. Neonatal screening for very long-chain acyl-coA dehydrogenase deficiency: enzymatic and molecular evaluation of neonates with elevated C14:1-arnitine levels. Pediatrics. 2006;118:1065–1069. doi: 10.1542/peds.2006-0666. [DOI] [PubMed] [Google Scholar]
  11. Rhead W.J. Newborn screening for medium-chain acyl-CoA dehydrogenase deficiency: A global perspective. J Inherit Metab Dis. 2006;29:370–377. doi: 10.1007/s10545-006-0292-1. [DOI] [PubMed] [Google Scholar]
  12. Roe C.R., Sweetman L., Roe D.S., David F., Brunengraber H. Treatment of cardiomyopathy and rhabdomyolysis in long-chain fat oxidation disorders using an anaplerotic odd-chain triglyceride. J Clin Invest. 2002;110:259–269. doi: 10.1172/JCI15311. [DOI] [PMC free article] [PubMed] [Google Scholar]
  13. Sander J., Sander S., Steuerwald U., Janzen N., Peter M., Wanders R.J., Marquardt I., Korenke G.C., Das A.M. Neonatal screening for defects of the mitochondrial trifunctional protein. Mol Genet Metab. 2005;85:108–114. doi: 10.1016/j.ymgme.2005.02.002. [DOI] [PubMed] [Google Scholar]
  14. Spiekerkoetter U., Sun B., Zytkovicz T., Wanders R., Strauss A.W., Wendel U. MS/MS-based newborn and family screening detects asymptomatic patients with very-long-chain acyl-CoA dehydrogenase deficiency. J Pediatr. 2003;43:335–342. doi: 10.1067/S0022-3476(03)00292-0. [DOI] [PubMed] [Google Scholar]
  15. Spiekerkoetter U., Sun B., Khuchua Z., Bennett M.J., Strauss A.W. Molecular and phenotypic heterogeneity in mitochondrial trifunctional protein deficiency due to beta-subunit mutations. Hum Mutat. 2003;21:598–607. doi: 10.1002/humu.10211. [DOI] [PubMed] [Google Scholar]
  16. Spiekerkoetter U., Tokunaga C., Wendel U., Mayatepek E., Exil V., Duran M., Wijburg F.A., Wanders R.J., Strauss A.W. Changes in blood carnitine and acylcarnitine profiles of very long-chain acyl-CoA dehydrogenase-deficient mice subjected to stress. Eur J Clin Invest. 2004;34:191–196. doi: 10.1111/j.1365-2362.2004.01308.x. [DOI] [PubMed] [Google Scholar]
  17. Spiekerkoetter U., Bennett M.J., Ben-Zeev B., Strauss A.W., Tein I. Peripheral neuropathy, episodic myoglobinuria, and respiratory failure in deficiency of the mitochondrial trifunctional protein. Muscle and Nerve. 2004;29:66–72. doi: 10.1002/mus.10500. [DOI] [PubMed] [Google Scholar]
  18. Spiekerkoetter U., Khuchua Z., Yue Z., Bennett M.J., Strauss A.W. General mitochondrial trifunctional protein (TFP) deficiency as a result of either alpha-or beta-subunit mutations exhibits similar phenotypes because mutations in either subunit alter TFP complex expression and subunit turnover. Pediatr Res. 2004;55:190–196. doi: 10.1203/01.PDR.0000103931.80055.06. [DOI] [PubMed] [Google Scholar]
  19. Spiekerkoetter U., Tokunaga C., Wendel U., Mayatepek E., Ijlst L., Vaz F.M., van Vlies N., Overmars H., Duran M., Wijburg F.A., Wanders R.J., Strauss A.W. Tissue carnitine homeostasis in very-long-chain acyl-CoA dehydrogenase-deficient mice. Pediatr Res. 2005;57:760–764. doi: 10.1203/01.PDR.0000157915.26049.47. [DOI] [PubMed] [Google Scholar]
  20. Stanley C.A., Berry G.T., Bennett M.J., Willi S.M., Treem W.R., Hale D.E. Renal handling of carnitine in secondary carnitine deficiency disorders. Pediatr Res. 1993;34:89–97. doi: 10.1203/00006450-199307000-00021. [DOI] [PubMed] [Google Scholar]
  21. Strauss A.W., Powell C.K., Hale D.E., Andersen M.M., Ahuja A., Brackett J.C., Sims H.F. Molecular basis of human mitochondrial very long chain acyl-CoA dehydrogenase deficiency causing cardiomyopathy and sudden death in childhood. Proceedings of the National Academy of Sciences USA. 1995;92:10496–10500. doi: 10.1073/pnas.92.23.10496. [DOI] [PMC free article] [PubMed] [Google Scholar]
  22. Ushikubo S., Aoyama T., Kamijo T., Wanders R.J., Rinaldo P., Vockley J., Hashimoto T. Molecular characterization of mitochondrial trifunctional protein deficiency: Formation of the enzyme complex is important for stabilization of both α-and β-subunits. Am J Hum Genet. 1996;58:979–988. [PMC free article] [PubMed] [Google Scholar]
  23. Vaz F.M., Wanders R.J. Carnitine biosynthesis in mammals. Biochem J. 2002;361:417–429. doi: 10.1042/0264-6021:3610417. [DOI] [PMC free article] [PubMed] [Google Scholar]
  24. Vreken P., van Lint A.E., Bootsma A.H., Overmars H., Wanders R.J., van Gennip A.H. Quantitative plasma acylcarnitine analysis using electrospray tandem mass spectrometry for the diagnosis of organic acidaemias and fatty acid oxidation defects. J Inherit Metab Dis. 1999;22:302–306. doi: 10.1023/a:1005587617745. [DOI] [PubMed] [Google Scholar]
  25. Wanders R.J., Vreken P., den Boer M.E., Wijburg F.A., van Gennip A.H., Ijlst L. Disorders of mitochondrial fatty acyl-CoA beta-oxidation. J Inherit Metab Dis. 1999;22:442–487. doi: 10.1023/a:1005504223140. [DOI] [PubMed] [Google Scholar]
  26. Wilcken B., Wiley V., Hammond J., Carpenter K. Screening newborns for inborn errors of metabolism by tandem mass spectrometry. N Engl J Med. 2003;348:2304–2312. doi: 10.1056/NEJMoa025225. [DOI] [PubMed] [Google Scholar]
  27. Zytkovicz T.H., Fitzgerald E.F., Marsden D., Larson C.A., Shih V.E., Johnson D.M., Strauss A.W., Comeau A.M., Eaton R.B., Grady G.F. Tandem mass spectrometric analysis for amino, organic and fatty acid oxidation disorders in newborn dried blood spots: two-year summary from the New England screening program. Clin Chem. 2001;47:1945–1955. [PubMed] [Google Scholar]

Literaturverzeichnis

  1. Acosta P.B., Gross K.C. Hidden sources of galactose in the environment. Europ J Pediatr. 1995;154(Suppl 2):87–92. doi: 10.1007/BF02143811. [DOI] [PubMed] [Google Scholar]
  2. Berry G.T., Nissim I., Gibson J.B., Mazur A.T., Lin Z., Elsas L.J., Singh R.H., Klein P.D., Segal S. Quantitative assessment of whole body galactose metabolism in galactosemic patients. Eur J Pediatr. 1997;158(Suppl 1):43–49. doi: 10.1007/pl00014271. [DOI] [PubMed] [Google Scholar]
  3. Berry G.T., Segal S., Gitzelmann R. Disorders of galactose metabolism. In: Fernandes J., Saudubray J.M., van den Berghe G., Walter J.H., editors. Inborn metabolic diseases. 4th Edition. Heidelberg: Springer Verlag; 2006. pp. 123–130. [Google Scholar]
  4. Beutler E., Baluda M.C., Sturgeon P., Day R. A new genetic abnormality resulting in galactose-1-phosphate uridyltransferase deficiency. Lancet. 1965;1:353–354. doi: 10.1016/s0140-6736(65)91782-4. [DOI] [PubMed] [Google Scholar]
  5. Bosch A.M. Classical galactosaemia revisited. J Inherit Metab Dis. 2006;29:516–525. doi: 10.1007/s10545-006-0382-0. [DOI] [PubMed] [Google Scholar]
  6. Bosch A.M., Bakker H.D., van Gennip A.H., van Kempen J.V., Wanders R.J., Wijburg F.A. Clinical features of galactokinase deficiency: a review of the literature. J Inherit Metab Dis. 2002;25:629–634. doi: 10.1023/a:1022875629436. [DOI] [PubMed] [Google Scholar]
  7. Elsas L.J., Lai K., Saunders C.J., Langley S.D. Functional analysis of the human galactose-1-phosphate uridyltransferase promotor in Duarte and LA variant galactosemia. Mol Gen Metab. 2001;72:297–305. doi: 10.1006/mgme.2001.3157. [DOI] [PubMed] [Google Scholar]
  8. Frey P.A. The Leloir pathway: a mechanistic imperative for three enzymes to change stereochemical configuration of a single carbon in galactose. FASEB J. 1996;10:461–470. [PubMed] [Google Scholar]
  9. Holton J.B., Walter J.H., Tyfield L.A. Galactosemia. In: Scriver C.R., Beaudet A.L., Sly W.S., Valle D., editors. The Metabolic and Molecular Bases of Inherited Diseases. 8. Auflage. New York: McGraw-Hill; 2001. pp. 1553–1587. [Google Scholar]
  10. Holden H.M., Rayment I., Thoden J.B. Structure and function of enzymes of the Leloir pathway for galactose metabolism. J Biol Chem. 2003;278:43885–43888. doi: 10.1074/jbc.R300025200. [DOI] [PubMed] [Google Scholar]
  11. Huidekoper H.H., Bosch A.M., van der Crabben S.N., Sauerwein H.P., Ackermans M.T., Wijburg F.A. Short-term exogenous galactose supplementation does not influence rate of appearance of galactose in patients with classical galactosemia. Mol Genet Metab. 2005;84:265–272. doi: 10.1016/j.ymgme.2004.09.013. [DOI] [PubMed] [Google Scholar]
  12. Jacobs C., Schweitzer S., Dorland B. Galactitol in galactosemia. Eur J Ped. 1995;154(Suppl 2):50–52. doi: 10.1007/BF02143804. [DOI] [PubMed] [Google Scholar]
  13. Leslie N.D., Immerman E.B., Flach J.E., Florez M., Fridovic-Keil J.L., Elsas L.J. The human galactose-1-phosphate uridyltransferase gene. Genomics. 1992;14:474–480. doi: 10.1016/s0888-7543(05)80244-7. [DOI] [PubMed] [Google Scholar]
  14. Müller E. Galaktosämie. In: Müller E., editor. Praktische Diätetik in der Pädiatrie. 1. Auflage. Heilbronn: SPS Verlagsgesellschaft; 2003. pp. 190–196. [Google Scholar]
  15. D-A-CH Arbeitsgruppe . Referenzwerte für die Nährstoffzufuhr. Frankfurt am Main: Umschau-Braus GmbH; 2000. [Google Scholar]
  16. Schweitzer-Krantz S. Early diagnosis of inherited metabolic disorders towards improving outcome: the controversial issue of galactosemia. Eur J Pediatr. 2003;162(Suppl 1):50–53. doi: 10.1007/s00431-003-1352-2. [DOI] [PubMed] [Google Scholar]
  17. Schweitzer S., Shin Y., Jakobs, Brodehl J. Long-term outcome in 134 patients with galactosemia. Eur J Pediatr. 1993;152:36–42. doi: 10.1007/BF02072514. [DOI] [PubMed] [Google Scholar]
  18. Wachtel U., Hilgarth R. Ernährung und Diätetik in Pädiatrie und Jugendmedizin. Stuttgart New York: Georg Thieme Verlag; 1995. pp. 284–289. [Google Scholar]
  19. Wimmer K. Diätetik bei Galaktosämie. In: Grotzke M., Müller E., editors. Klinik und Behandlung angeborener Störungen im Kohlenhydrat-und Energie-Stoffwechsel in der Pädiatrie. Workshop für pädiatrische Diätetik 2001. Heilbronn: SPS Verlagsgesellschaft; 2002. pp. 72–75. [Google Scholar]

Literaturverzeichnis

  1. Baker L., Winegard A.I. Fasting hypoglycemia and metabolic acidosis associated with deficiency of hepatic fructose-1,6-biphosphatase activity. Lancet. 1970;2:13–16. doi: 10.1016/s0140-6736(70)92474-8. [DOI] [PubMed] [Google Scholar]
  2. Besley G.T.N., Walter J.H., Lewis M.A., Chard C.R., Addison G.M. Fructose-1,6-biphosphatase deficiency: severe phenotype with normal leukocyte enzyme activity. J Inher Metab Dis. 1994;17:333–335. doi: 10.1007/BF00711822. [DOI] [PubMed] [Google Scholar]
  3. Chambers R.A., Pratt R.T.C. Idiosyncrasy to fructose. Lancet. 1956;2:340. doi: 10.1016/s0140-6736(56)92196-1. [DOI] [PubMed] [Google Scholar]
  4. Cox T.M. Iatrogenic deaths in hereditary fructose intolerance. Arch Dis Child. 1993;69:413–415. doi: 10.1136/adc.69.4.413. [DOI] [PMC free article] [PubMed] [Google Scholar]
  5. Deutsche Gesellschaft für Ernährung (2008) Referenzwerte für die Nährstoffzufuhr; D-A-CH Referenzwerte der DGE, ÖGE, SGE/SVE. Verfügbar unter http://www.dge.de [24. 11. 2008]
  6. Marthaler T.M., Froesch E.R. Hereditary fructose intolerance. Dental status of eight patients. Br Dent J. 1967;123:597–599. [PubMed] [Google Scholar]
  7. Mock D.M., Perman J.A., Thaler M., Morris J.C. Chronic fructose intoxication after infancy in children with hereditary fructose intolerance. A cause of growth retardation. N Engl J Med. 1988;309:764–770. doi: 10.1056/NEJM198309293091305. [DOI] [PubMed] [Google Scholar]
  8. Müller E. Ernährung bei Fruktoseintoleranz. In: Müller E., editor. Praktische Diätetik in der Pädiatrie — Grundlagen für die Ernährungstherapie. 1. Auflage. Heilbronn: SPS Verlagsgesellschaft; 2003. pp. 182–189. [Google Scholar]
  9. Pronicka E., Adamowicz M., Kowalik A., Plosi R., Radomyska B., Rogaszewka M., Rokicki D., Sykut-Cegielska J. Elevated carbohydrate-deficient transferrin (CDT) and its normalization on dietary treatment as a useful biochemical test for hereditary fructose intolerance and galactosemia. Pediatr Res. 2007;62:101–105. doi: 10.1203/PDR.0b013e318068641a. [DOI] [PubMed] [Google Scholar]
  10. Richtlinie 2006/141/EG der Kommission vom 22. Dezember 2006 über Säuglingsanfangsnahrung und Folgenahrung und zur Änderung der Richtlinie 1999/21/EG (Text von Bedeutung für den EWR), 2006: L401/1-L401/33
  11. Scholl S. Überblick des Kohlenhydrat-und Energie-Stoffwechsels. In: Grotzke M., Müller E., editors. Klinik und Behandlung angeborener Störungen im Kohlenhydrat-und Energie-Stoffwechsel in der Pädiatrie. Heilbronn: SPS Verlagsgesellschaft; 2002. pp. 11–16. [Google Scholar]
  12. Steinmann B., Gitzelmann R., Van den Berghe G. Disorders of Fructose Metabolism. In: Scriver C.R., Beau-Beaudet A.L., Sly W.S., Valle D., editors. The Metabolic and Molecular Bases of Inherited Disease. 8th edition. New York: McGraw Hill; 2001. pp. 1489–1520. [Google Scholar]
  13. Steinmann B., Santer R., Van den Berghe G. Disorders of Fructose Metabolism. In: Fernandes J., Saudubray J.M., van den Berghe G., Walter J.H., editors. Inborn Metabolic Diseases. 4th Revised Edition. Heidelberg: Springer Medizin Verlag; 2006. pp. 135–142. [Google Scholar]
  14. Zschocke J., Hoffmann G. Störungen im Stoffwechsel von Galactose und Fructose. In: Zschocke J., Hoffmann G., editors. Vademecum Metabolicum. Diagnose und Therapie erblicher Stoffwechselkrankheiten. Stuttgart: Schattauer GmbH; 2004. p. 102. [Google Scholar]

Literaturverzeichnis

  1. Bao Y., Kishnani P., Wu J.Y., Chen Y.T. Hepatic and neuromuscular forms of glycogen storage disease type IV caused by mutations in the same glycogen-branching enzyme gene. J Clin Invest. 1996;97:941–948. doi: 10.1172/JCI118517. [DOI] [PMC free article] [PubMed] [Google Scholar]
  2. Chen S.Y. Glycogen Storage Diseases. In: Scriver C.R., Beaudet A.L., Sly W.S., Valle D., editors. The Metabolic and Molecular Bases of Inherited Disease. 8th edition. New York: McGraw Hill; 2001. pp. 1521–1551. [Google Scholar]
  3. Chen S.Y., Pan C.J., Nandigama K., Mansfield B.C., Ambudkar S.V., Chou J.Y. The glucose-6-phosphate transporter is a phosphate-linked antiporter deficient in glycogen storage disease type Ib and Ic. FASEB. 2008;22:2206–2213. doi: 10.1096/fj.07-104851. [DOI] [PubMed] [Google Scholar]
  4. Fernandes J., Leonard J.V., Moses S.W., Odievre M., di Rocco M., Schuab J., Smit G.P.A., Ullrich K., Durand P. Glycogen storage disease: recommendations for treatment. Eur J Pediatr. 1988;147:226–228. doi: 10.1007/BF00442683. [DOI] [PubMed] [Google Scholar]
  5. Goldberg T., Slonim A.E. Nutrition therapy for hepatic glycogen storage diseases. J Am Diet Assoc. 1993;93:1423–1430. doi: 10.1016/0002-8223(93)92246-t. [DOI] [PubMed] [Google Scholar]
  6. Hayde M., Widhalm K. Effects of cornstarch treatment in very young children with type I glycogen storage disease. Eur J Pediatr. 1990;149:630–633. doi: 10.1007/BF02034750. [DOI] [PubMed] [Google Scholar]
  7. Kishnani P.S., Nicolino M., Voit T., Rogers R.C., Tsai A.C., Waterson J., Herman G.E., Amalfitano A., Thurberg B.L., Richards S., Davison M., Corzo D., Chen Y.T. Chinese hamster ovary cell-derived recombinant human acid alpha-glucosidase in infantile-onset Pompe disease. J Pediatr. 2006;149:89–97. doi: 10.1016/j.jpeds.2006.02.035. [DOI] [PMC free article] [PubMed] [Google Scholar]
  8. Moses S.W., Parvari R. The variable presentations of glycogen storage disease type IV: a review of clinical, enzymatic and molecular studies. Curr Mol Med. 2002;2:177–188. doi: 10.2174/1566524024605815. [DOI] [PubMed] [Google Scholar]
  9. Rake J.P., Visser G., Huismans D., Huitema S., van den Veer E., Piers D.A., Smit G.P.A. Bone mineral density in children, adolescents and adults with glycogen storage disease type Ia: a cross-sectional and longitudinal study. J Inher Metab Dis. 2003;26:371–284. doi: 10.1023/a:1025111220095. [DOI] [PubMed] [Google Scholar]
  10. Rake J.P., Visser G., Labrune P., Leonard J.V., Ullrich K., Smit G.P.A. Guidelines for management of glycogen storage type I — European Study on Glycogen Storage Disease Type I (ESGSD I) Eur J Pediatr. 2002;161:S112–S119. doi: 10.1007/s00431-002-1016-7. [DOI] [PubMed] [Google Scholar]
  11. Shin Y.S. Glycogen storage disease: clinical, biochemical, and molecular heterogeneity. Semin Pediatr Neurol. 2006;13:115–120. doi: 10.1016/j.spen.2006.06.007. [DOI] [PubMed] [Google Scholar]
  12. Smit G.P.A., Rake J.P., Akman H.O., DiMauro S. The Glycogen Storage Diseases and Related Disorders. In: Fernandes J., Saudubray J.M., van den Berghe G., Walter J.H., editors. Inborn Metabolic Diseases. 4th Revised Edition. Heidelberg: Springer Medizin Verlag; 2006. pp. S102–S119. [Google Scholar]
  13. Van den Hout J.M., Kamphoven J.H., Winkel L.P., Arts W.F., De Klerk J.B., Loonen M.C., Vulto A.G., Cromme-Dijkhuis A., Weisglas-Kuperus N., Hop W., Van Hirtum H., Van Diggelen O.P., Boer M., Kroos M.A., Van Doorn P.A., Van der Voort E., Sibbles B., Van Corven E.J., Brakenhoff J.P., Van Hove J., Smeitink J.A., de Jong G., Reuser A.J., Van der Ploeg A.T. Long-term intravenous treatment of Pompe disease with recombinant human alpha-glucosidase from milk. Pediatrics. 2004;113:e448–e457. doi: 10.1542/peds.113.5.e448. [DOI] [PubMed] [Google Scholar]
  14. Veigha-da-Cunha M., Gerin I., Van Schaftingen E. How many forms of glycogen storage disease type I? Eur J Pediatr. 2000;159:314–318. doi: 10.1007/s004310051279. [DOI] [PubMed] [Google Scholar]
  15. Visser G., Rake J.P., Labrune P., Leonard J.V., Moses S., Ullrich K., Wendel U., Smit G.P.A. Consensus guidelines for management or glycogen storage diseases type Ib — European Study on Glycogen Storage Type I. Eur J Pediatr. 2002;161:S120–S123. doi: 10.1007/s00431-002-1017-6. [DOI] [PubMed] [Google Scholar]
  16. Visser G., Rake J.P., Labrune P., Leonard J.V., Moses S., Ullrich K., Wendel U., Groenier K.H., Smit G.P.A. Granulocyte colony-stimulating factor in glycogen storage type Ib. Results of the European Study on Glycogen Storage Type I. Eur J Pediatr. 2002;161:S83–S87. doi: 10.1007/s00431-002-1010-0. [DOI] [PubMed] [Google Scholar]
  17. Zschocke J., Hoffmann G., Glykogenosen . In: Vademecum Metabolicum. Diagnose und Therapie erblicher Stoffwechselkrankheiten. Zschocke J., Hoffmann G., editors. Stuttgart: Schattauer GmbH; 2004. pp. 104–106. [Google Scholar]

Literaturverzeichnis

  1. Battini R., Alessandri M.G., Leuzzi V., Moro F., Tosetti M., Bianchi M.C., Cioni G. Arginine:Glycine Amidinotransferase (AGAT) deficiency in a newborn: early treatment can prevent phenotypic expression of the disease. J Pediatr. 2006;148:828–830. doi: 10.1016/j.jpeds.2006.01.043. [DOI] [PubMed] [Google Scholar]
  2. Chilosi A., Leuzzi V., Battini R., Tosetti M., Ferretti G., Comparini A., Casarano M., Moretti E., Alessandri M.G., Bianchi M.C., Cioni G. Treatment with L-arginine improves neuropsychological disorders in a child with creatine transporter defect. Neurocase. 2008;14:151–161. doi: 10.1080/13554790802060821. [DOI] [PubMed] [Google Scholar]
  3. Fons C., Sempere A., Arias A., López-Sala A., Póo P., Pineda M., Mas A., Vilaseca M.A., Salomons G.S., Ribes A., Artuch R., Campistol J. Arginine supplementation in four patients with X-linked creatine transporter defect. J Inherit Metab Dis. 2008;31:724–728. doi: 10.1007/s10545-008-0902-1. [DOI] [PubMed] [Google Scholar]
  4. Heinanen K., Nanto-Salonen K., Komu M., Erkintalo M., Heinonen O.J., Pulkki K., Valtonen M., Nikoskeleinen E., Alanen A., Simell O. Muscle creatine phosphate in gyrate atrophy of the choroid and retina with hyperornithemia — clues to pathogenesis. Eur J Clin Invest. 1999;29:426–431. doi: 10.1046/j.1365-2362.1999.00467.x. [DOI] [PubMed] [Google Scholar]
  5. Hespel P, Derave W (2007) Ergogenic effects of creaine in sports and rehabilitation. In: Salomons GS, Wyss M (eds) Creatine and creatine kinase in health and disease. Subcellular Biochemistry. Springer, pp 254–259
  6. Klein AM, Ferrante RJ (2007) The neuroprotective role of creatine. In: Salomons GS, Wyss M (eds) Creatine and creatine kinase in health and disease. Subcellular Biochemistry. Springer, pp 205–243
  7. Mercimek-Mahmutoglu S., Stoeckler-Ipsiroglu S., Adami A., Appleton R., Araujo H.C., Duran M., Ensenauer R., Fernandez-Alvarez E., Garcia P., Grolik C., Item C.B., Leuzzi V., Marquardt I., Muhl A., Saelke-Kellermann R.A., Salomons G.S., Schulze A., Surtees R., van der Knaap M.S., Vasconcelos R., Verhoeven N.M., Vilarinho L., Wilichowski E., Jakobs C. GAMT deficiency: features, treatment, and outcome in an inborn error of creatine synthesis. Neurology. 2006;67:480–484. doi: 10.1212/01.wnl.0000234852.43688.bf. [DOI] [PubMed] [Google Scholar]
  8. Schulze A., Hoffmann G.F., Bachert P., Kirsch S., Salomons G.S., Verhoeven N.M., Mayatepek E. Presymptomatic treatment of neonatal guanidinoacetate methyltransferase deficiency. Neurology. 2006;67:719–721. doi: 10.1212/01.wnl.0000230152.25203.01. [DOI] [PubMed] [Google Scholar]
  9. Stöckler-Ipsiroglu S., Battini R., de Grauw T., Schulze A. Disorders of creatine metabolism. In: Blau N., Hoffmann G.F., Leonard J., Clarke J.T.R., editors. Physicians guide to the treatment and follow up of metabolic diseases. Heidelberg: Springer Verlag; 2005. pp. 255–265. [Google Scholar]
  10. Stöckler-Ipsiroglu S., Salomons G.S. Creatine Deficiency Syndromes. In: Fernandes J., Saudubray J.M., van den Berghe G., editors. Inborn Metabolic Diseases. Berlin Heidelberg New York: Springer; 2006. pp. 211–217. [Google Scholar]
  11. Stöckler-Ipsiroglu S., Stromberger C., Item C.B., Mühl A. Disorders of creatine metabolism. In: Blau N., Duran M., Blaskovics M.E., Gibson K.M., editors. Physician’s guide to the laboratory diagnosis of metabolic diseases. Heidelberg: Springer; 2003. pp. 467–480. [Google Scholar]
  12. Tarnopolsky MA (2007) Clinical use of creatine in neuromuscular and neurometabolic disorders. In: Salomons GS, Wyss M (eds) Creatine and creatine kinase in health and disease. Subcellular Biochemistry. Springer, pp 183–204 [DOI] [PubMed]
  13. Wyss M., Kaddurah-Daouk R. Creatine and creatinine metabolism. Physiol Rev. 2000;80:1107–213. doi: 10.1152/physrev.2000.80.3.1107. [DOI] [PubMed] [Google Scholar]

Literaturverzeichnis

  1. Mönch E., Link R. Diagnostik und Therapie bei angeborenen Stoffwechselstörungen. Heilbronn: SPS Publ.; 2006. [Google Scholar]
  2. Wolf B. Disorders of Biotin Metabolism. In: Scriver C.R., Beaudet A.L., Valle D., Sly W.S., Vogelstein B., Childs B., Kinzler K.W., editors. The Metabolic and Molecular Bases of Inherited Disease. New York: McGraw-Hill; 2001. pp. 3935–3962. [Google Scholar]
  3. Sweetman L., Nyhan W.L. Inheritable biotin-treatable disorders and associated phenomena. Ann Rev Nutr. 1986;6:317–343. doi: 10.1146/annurev.nu.06.070186.001533. [DOI] [PubMed] [Google Scholar]
  4. Santer R., Muhle H., Suormala T., Baumgartner E.R., Duran M., Yang X., Aoki Y., Suzuki Y., Stephani U. Partial response to biotin therapy in a patient with holocarboxylase synthetase deficiency: clinical, biochemical, and molecular genetic aspects. Mol Genet Metab. 2003;79:160–166. doi: 10.1016/s1096-7192(03)00091-x. [DOI] [PubMed] [Google Scholar]
  5. Möslinger D., Mühl A., Suormala T., Baumgartner R., Stöckler-Ipsiroglu S. Molecular characterisation and neuropsychological outcome of 21 patients with profound biotinidase deficiency detected by new-born screening and family studies. Eur J Pediatr. 2003;162(Suppl.1):46–49. doi: 10.1007/s00431-003-1351-3. [DOI] [PubMed] [Google Scholar]

Literaturverzeichnis

  1. Mönch E., Link R. Diagnostik und Therapie bei angeborenen Stoffwechselstörungen. Heilbronn: SPS Publ.; 2006. [Google Scholar]
  2. Valle D., Simell O. The Hyperornithinemias. In: Scriver C.R., Beaudet A.L., Valle D., Sly W.S., Vogelstein B., Childs B., Kinzler K.W., editors. The Metabolic and Molecular Bases of Inherited Disease. New York: McGraw-Hill; 2001. pp. 1857–1895. [Google Scholar]
  3. Valtonen M., Nanto-Salonen K., Jaaskelainen S., Heinanen K., Alanen A., Heinonen O.J., Lundbom N., Erkintalo M., Simell O. Central nervous system involvement in gyrate atrophy of the choroids and retina with hyperornithinaemia. J Inher Metab Dis. 1999;22:855–866. doi: 10.1023/a:1005602405349. [DOI] [PubMed] [Google Scholar]
  4. Peltola K.E., Jaaskelainen S., Heinonen O.J., Nanto-Salonen K., Heinanen K., Simell O. Peripheral nervous system in gyrate atrophy of the choroids and retina with hyperammonemia. Neurology. 2002;59:735–740. doi: 10.1212/wnl.59.5.735. [DOI] [PubMed] [Google Scholar]
  5. Santinelli R., Costagliola C., Tolone C., D’Aloia A., D’Avanzo A., Prisco F., Perrone L., del Giudice E.M. Low-protein diet and progression of retinal degeneration in gyrate atrophy of the choroid and retina: a twenty-six-year follow-up. J Inher Metab Dis. 2004;27:187–119. doi: 10.1023/B:BOLI.0000028779.29966.05. [DOI] [PubMed] [Google Scholar]

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