Fatal cases of lipid storage myopathy with carnitine deficiency.
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.
D000328:Adult; D002331:Carnitine / Q000172:deficiency*; D002648:Child; D005260:Female; D006801:Humans; D002479:Inclusion Bodies / Q000648:ultrastructure; D008052:Lipid Metabolism, Inborn Errors / Q000473:pathology*; D008297:Male; D009132:Muscles / Q000032:analysis / Q000648:ultrastructure; D009135:Muscular Diseases / Q000473:pathology*; D009206:Myocardium / Q000648:ultrastructure
D002331:Carnitine