Skip to main content
Archives of Disease in Childhood logoLink to Archives of Disease in Childhood
. 1963 Oct;38(201):425–436. doi: 10.1136/adc.38.201.425

Homocystinuria: A new inborn error of Metabolism associated with Mental Deficiency

Nina A J Carson, D C Cusworth, C E Dent, C M B Field, D W Neill, R G Westall
PMCID: PMC2019092  PMID: 14065982

Full text

PDF
425

Images in this article

Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. ALLAN J. D., CUSWORTH D. C., DENT C. E., WILSON V. K. A disease, probably hereditary characterised by severe mental deficiency and a constant gross abnormality of aminoacid metabolism. Lancet. 1958 Jan 25;1(7013):182–187. doi: 10.1016/s0140-6736(58)90666-4. [DOI] [PubMed] [Google Scholar]
  2. AUERBACH V. H., DIGEORGE A. M., BALDRIDGE R. C., TOURTELLOTTE C. D., BRIGHAM M. P. Histidinemia. A deficiency in histidase resulting in the urinary excretion of histidine and of imidazolepyruvic acid. J Pediatr. 1962 Apr;60:487–497. doi: 10.1016/s0022-3476(62)80109-7. [DOI] [PubMed] [Google Scholar]
  3. BARON D. N., DENT C. E., HARRIS H., HART E. W., JEPSON J. B. Hereditary pellagra-like skin rash with temporary cerebellar ataxia, constant renal amino-aciduria, and other bizarre biochemical features. Lancet. 1956 Sep 1;271(6940):421–428. doi: 10.1016/s0140-6736(56)91914-6. [DOI] [PubMed] [Google Scholar]
  4. CARSON N. A., NEILL D. W. Metabolic abnormalities detected in a survey of mentally backward individuals in Northern Ireland. Arch Dis Child. 1962 Oct;37:505–513. doi: 10.1136/adc.37.195.505. [DOI] [PMC free article] [PubMed] [Google Scholar]
  5. CHILDS B., NYHAN W. L., BORDEN M., BARD L., COOKE R. E. Idiopathic hyperglycinemia and hyperglycinuria: a new disorder of amino acid metabolism. I. Pediatrics. 1961 Apr;27:522–538. [PubMed] [Google Scholar]
  6. CUSWORTH D. C., DENT C. E. Renal clearances of amino acids in normal adults and in patients with aminoaciduria. Biochem J. 1960 Mar;74:550–561. doi: 10.1042/bj0740550. [DOI] [PMC free article] [PubMed] [Google Scholar]
  7. DANCIS J., LEVITZ M., WESTALL R. G. Maple syrup urine disease: branched-chain keto-aciduria. Pediatrics. 1960 Jan;25:72–79. [PubMed] [Google Scholar]
  8. DENT C. E., ROSE G. A. Aminoacid metabolism in cystinuria. Q J Med. 1951 Jul;20(79):205–219. [PubMed] [Google Scholar]
  9. DENT C. E., SENIOR B. Studies on the treatment of cystinuria. Br J Urol. 1955 Dec;27(4):317–332. doi: 10.1111/j.1464-410x.1955.tb03486.x. [DOI] [PubMed] [Google Scholar]
  10. DENT C. E., SENIOR B., WALSHE J. M. The pathogenesis of cystinuria. II. Polarographic studies of the metabolism of sulfur-containing amino-acids. J Clin Invest. 1954 Sep;33(9):1216–1226. doi: 10.1172/JCI102996. [DOI] [PMC free article] [PubMed] [Google Scholar]
  11. DENT C. E., WESTALL R. G. Studies in maple syrup urine disease. Arch Dis Child. 1961 Jun;36:259–268. doi: 10.1136/adc.36.187.259. [DOI] [PMC free article] [PubMed] [Google Scholar]
  12. DENYS P., CORBEEL L., EGGERMONT E., MALBRAIN H. Le syndrome Lowe; étude de la fonction tubulaire. Pediatrie. 1958;13(6):639–660. [PubMed] [Google Scholar]
  13. Dent C. E. A study of the behaviour of some sixty amino-acids and other ninhydrin-reacting substances on phenol-;collidine' filter-paper chromatograms, with notes as to the occurrence of some of them in biological fluids. Biochem J. 1948;43(2):169–180. [PMC free article] [PubMed] [Google Scholar]
  14. EAGLE H., OYAMA V. I., PIEZ K. A. The reversible binding of half-cystine residues to serum protein, and its bearing on the cystine requirement of cultured mammalian cells. J Biol Chem. 1960 Jun;235:1719–1726. [PubMed] [Google Scholar]
  15. GHADIMI H., PARTINGTON M. W., HUNTER A. A familial disturbance of histidine metabolism. N Engl J Med. 1961 Aug 3;265:221–224. doi: 10.1056/NEJM196108032650504. [DOI] [PubMed] [Google Scholar]
  16. HARKNESS J., ROPER B. W., DURANT J. A., MILLER H. The serum leucine aminopeptidase test: an appraisal of its value in diagnosis of carcinoma of pancreas. Br Med J. 1960 Jun 11;1(5188):1787–1790. doi: 10.1136/bmj.1.5188.1787. [DOI] [PMC free article] [PubMed] [Google Scholar]
  17. HARRIS H., PENROSE L. S., THOMAS D. H. Cystathioniuria. Ann Hum Genet. 1959 Dec;23:442–453. doi: 10.1111/j.1469-1809.1959.tb01485.x. [DOI] [PubMed] [Google Scholar]
  18. HIRS C. H. W., MOORE S., STEIN W. H. Isolation of amino acids by chromatography on ion exchange columns; use of volatile buffers. J Biol Chem. 1952 Apr;195(2):669–696. [PubMed] [Google Scholar]
  19. LOWE C. U., TERREY M., MacLACHLAN E. A. Organic-aciduria, decreased renal ammonia production, hydrophthalmos, and mental retardation; a clinical entity. AMA Am J Dis Child. 1952 Feb;83(2):164–184. doi: 10.1001/archpedi.1952.02040060030004. [DOI] [PubMed] [Google Scholar]
  20. Partridge S. M. Displacement chromatography on synthetic ion-exchange resins. 3. Fractionation of a protein hydrolysate. Biochem J. 1949;44(5):521–527. [PMC free article] [PubMed] [Google Scholar]
  21. RACKER E. Glutathione-homocystine transhydrogenase. J Biol Chem. 1955 Dec;217(2):867–874. [PubMed] [Google Scholar]
  22. SCHAFER I. A., SCRIVER C. R., EFRON M. L. Familial hyperprolinemia, cerebral dysfunction and renal anomalies occuring in a family with hereditary nephropathy and deafness. N Engl J Med. 1962 Jul 12;267:51–60. doi: 10.1056/NEJM196207122670201. [DOI] [PubMed] [Google Scholar]
  23. SCHRAM E., MOORE S., BIGWOOD E. J. Chromatographic determination of cystine as cysteic acid. Biochem J. 1954 May;57(1):33–37. doi: 10.1042/bj0570033. [DOI] [PMC free article] [PubMed] [Google Scholar]
  24. SOUPART P., MOORE S., BIGWOOD E. J. Amino acid composition of human milk. J Biol Chem. 1954 Feb;206(2):699–704. [PubMed] [Google Scholar]
  25. STEIN W. H., MOORE S. The free amino acids of human blood plasma. J Biol Chem. 1954 Dec;211(2):915–926. [PubMed] [Google Scholar]
  26. STERKEL R. L., SPENCER J. A., WOLFSON S. K., Jr, WILLIAMS-ASHMAN H. G. Serum isocitric dehydrogenase activity with particular reference to liver disease. J Lab Clin Med. 1958 Aug;52(2):176–184. [PubMed] [Google Scholar]
  27. WESTALL R. G. The amino acids and other ampholytes of urine. 3. Unidentified substances excreted in normal human urine. Biochem J. 1955 Jun;60(2):247–255. doi: 10.1042/bj0600247. [DOI] [PMC free article] [PubMed] [Google Scholar]

Articles from Archives of Disease in Childhood are provided here courtesy of BMJ Publishing Group

RESOURCES