Lipid storage myopathy associated with low acyl-CoA dehydrogenase activities

Brain. 1988 Aug:111 ( Pt 4):815-28. doi: 10.1093/brain/111.4.815.

Abstract

A man with a painful proximal myopathy had excess lipid deposition in skeletal muscle, excretion of dicarboxylic acids in urine and low acyl-CoA dehydrogenase activities in skeletal muscle mitochondria. In addition he had little immunoreactive short-chain and medium-chain acyl-CoA dehydrogenase enzyme protein compared with normal controls. Following treatment with riboflavin there was considerable improvement in his clinical condition which was confirmed by further biochemical and morphological investigations.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Acyl-CoA Dehydrogenases / deficiency*
  • Adult
  • Cytochromes / metabolism
  • Histocytochemistry
  • Humans
  • Immunologic Techniques
  • Lipid Metabolism*
  • Male
  • Microscopy, Electron
  • Mitochondria, Muscle / enzymology
  • Muscular Diseases / drug therapy
  • Muscular Diseases / enzymology*
  • Muscular Diseases / metabolism
  • Muscular Diseases / pathology
  • Oxidation-Reduction
  • Riboflavin / therapeutic use

Substances

  • Cytochromes
  • Acyl-CoA Dehydrogenases
  • Riboflavin