Skip to main content
NCBI home page
Journal of Neurology, Neurosurgery, and Psychiatry logoLink to Journal of Neurology, Neurosurgery, and Psychiatry
. 1977 Feb;40(2):170–178. doi: 10.1136/jnnp.40.2.170

Fatal cases of lipid storage myopathy with carnitine deficiency.

F Cornelio, S Di Donato, D Peluchetti, A Bizze, B Bertagnolio, A D'Angelo, U Wiesmann
PMCID: PMC492634  PMID: 194020

Abstract

Three patients affected by a progressive myopathy with rapid lethal evolution are presented. Excessive lipid storage was found in type 1 fibres of muscle and in liver, kidney, and myocardium. Carnitine concentrations were markedly reduced in muscle, plasma, and heart, significantly lower in the liver, and normal in kidney. D-L carnitine replacement therapy was ineffective in the only case treated. The relationship of the present cases with the syndrome of lipid storage myopathy and carnitine deficiency is discussed.

Full text

PDF
170

Images in this article

171Image
on p.171
172Image
on p.172
173Image
on p.173
174Image
on p.174

Selected References

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

  1. Bradley W. G., Hudgson P., Gardner-Medwin D., Walton J. N. Myopathy associated with abnormal lipid metabolism in skeletal muscle. Lancet. 1969 Mar 8;1(7593):495–498. doi: 10.1016/s0140-6736(69)91593-1. [DOI] [PubMed] [Google Scholar]
  2. Cederblad G., Lindstedt S. A method for the determination of carnitine in the picomole range. Clin Chim Acta. 1972 Mar;37:235–243. doi: 10.1016/0009-8981(72)90438-x. [DOI] [PubMed] [Google Scholar]
  3. Chanarin I., Patel A., Slavin G., Wills E. J., Andrews T. M., Stewart G. Neutral-lipid storage disease: a new disorder of lipid metabolism. Br Med J. 1975 Mar 8;1(5957):553–555. doi: 10.1136/bmj.1.5957.553. [DOI] [PMC free article] [PubMed] [Google Scholar]
  4. Cornelio F., Allegranza A., Bizzi A., Cescon I., Mussini E., Peluchetti D. Lipidose généralisée a triglycérides (triglycéridose). Première contribution anatomo-clinique. Rev Neurol (Paris) 1975 Sep;131(9):629–644. [PubMed] [Google Scholar]
  5. Engel A. G., Angelini C. Carnitine deficiency of human skeletal muscle with associated lipid storage myopathy: a new syndrome. Science. 1973 Mar 2;179(4076):899–902. doi: 10.1126/science.179.4076.899. [DOI] [PubMed] [Google Scholar]
  6. Engel W. K., Vick N. A., Glueck C. J., Levy R. I. A skeletal-muscle disorder associated with intermittent symptoms and a possible defect of lipid metabolism. N Engl J Med. 1970 Mar 26;282(13):697–704. doi: 10.1056/NEJM197003262821301. [DOI] [PubMed] [Google Scholar]
  7. FOLCH J., LEES M., SLOANE STANLEY G. H. A simple method for the isolation and purification of total lipides from animal tissues. J Biol Chem. 1957 May;226(1):497–509. [PubMed] [Google Scholar]
  8. Fritz I. B. An hypothesis concerning the role of carnitine in the control of interrelations between fatty acid and carbohydrate metabolism. Perspect Biol Med. 1967 Summer;10(4):643–677. doi: 10.1353/pbm.1967.0019. [DOI] [PubMed] [Google Scholar]
  9. Kampine J. P., Brady R. O., Kanfer J. N., Feld M., Shapiro D. Diagnosis of gaucher's disease and niemann-pick disease with small samples of venous blood. Science. 1967 Jan 6;155(3758):86–88. doi: 10.1126/science.155.3758.86. [DOI] [PubMed] [Google Scholar]
  10. Karpati G., Carpenter S., Engel A. G., Watters G., Allen J., Rothman S., Klassen G., Mamer O. A. The syndrome of systemic carnitine deficiency. Clinical, morphologic, biochemical, and pathophysiologic features. Neurology. 1975 Jan;25(1):16–24. doi: 10.1212/wnl.25.1.16. [DOI] [PubMed] [Google Scholar]
  11. LOWRY O. H., ROSEBROUGH N. J., FARR A. L., RANDALL R. J. Protein measurement with the Folin phenol reagent. J Biol Chem. 1951 Nov;193(1):265–275. [PubMed] [Google Scholar]
  12. MARQUIS N. R., FRITZ I. B. ENZYMOLOGICAL DETERMINATION OF FREE CARNITINE CONCENTRATIONS IN RAT TISSUES. J Lipid Res. 1964 Apr;5:184–187. [PubMed] [Google Scholar]
  13. Mahadevan S., Tappel A. L. Hydrolysis of higher fatty acid esters of p-nitrophenol by rat liver and kidney lysosomes. Arch Biochem Biophys. 1968 Sep 10;126(3):945–953. doi: 10.1016/0003-9861(68)90488-8. [DOI] [PubMed] [Google Scholar]
  14. Markesbery W. R., McQuillen M. P., Procopis P. G., Harrison A. R., Engel A. G. Muscle carnitine deficiency. Association with lipid myopathy, vacuolar neuropathy, and vacuolated leukocytes. Arch Neurol. 1974 Nov;31(5):320–324. doi: 10.1001/archneur.1974.00490410068007. [DOI] [PubMed] [Google Scholar]
  15. O'BRIEN J. S., ROUSER G. ANALYSIS OF HYDROXY FATTY ACIDS BY GAS-LIQUID CHROMATOGRAPHY. Anal Biochem. 1964 Mar;7:288–296. doi: 10.1016/0003-2697(64)90133-2. [DOI] [PubMed] [Google Scholar]
  16. Slavin G., Wills E. J., Richmond J. E., Chanarin I., Andrews T., Stewart G. Morphological features in a neutral lipid storage disease. J Clin Pathol. 1975 Sep;28(9):701–710. doi: 10.1136/jcp.28.9.701. [DOI] [PMC free article] [PubMed] [Google Scholar]
  17. Smyth D. P., Lake B. D., MacDermot J., Wilson J. Letter: Inborn error of carnitine metabolism ("carnitine deficiency") in man. Lancet. 1975 May 24;1(7917):1198–1199. doi: 10.1016/s0140-6736(75)93191-8. [DOI] [PubMed] [Google Scholar]
  18. VanDyke D. H., Griggs R. C., Markesbery W., Dimauro S. Hereditary carnitine deficiency of muscle. Neurology. 1975 Feb;25(2):154–159. doi: 10.1212/wnl.25.2.154. [DOI] [PubMed] [Google Scholar]

Articles from Journal of Neurology, Neurosurgery, and Psychiatry are provided here courtesy of BMJ Publishing Group

RESOURCES