Fatal cases of lipid storage myopathy with carnitine deficiency

J Neurol Neurosurg Psychiatry. 1977 Feb;40(2):170-8. doi: 10.1136/jnnp.40.2.170.

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.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Carnitine / deficiency*
  • Child
  • Female
  • Humans
  • Inclusion Bodies / ultrastructure
  • Lipid Metabolism, Inborn Errors / pathology*
  • Male
  • Muscles / analysis
  • Muscles / ultrastructure
  • Muscular Diseases / pathology*
  • Myocardium / ultrastructure

Substances

  • Carnitine