Lipid storage myopathy associated with low acyl-CoA dehydrogenase activities.
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.
D044944:Acyl-CoA Dehydrogenases / Q000172:deficiency*; D000328:Adult; D003580:Cytochromes / Q000378:metabolism; D006651:Histocytochemistry; D006801:Humans; D007158:Immunologic Techniques; D050356:Lipid Metabolism; D008297:Male; D008854:Microscopy, Electron; D008931:Mitochondria, Muscle / Q000201:enzymology; D009135:Muscular Diseases / Q000188:drug therapy / Q000201:enzymology* / Q000378:metabolism / Q000473:pathology; D010084:Oxidation-Reduction; D012256:Riboflavin / Q000627:therapeutic use
D003580:Cytochromes; D044944:Acyl-CoA Dehydrogenases; D012256:Riboflavin