"Carnitine deficient" myopathy and cardiomyopathy with fatal outcome.
A 13-year-old boy with a mild limb girdle muscular weakness had a massive rhabdomyolysis and cardiac arrest after general anesthesia. A congestive cardiomyopathy then developed. Muscle biopsy revealed an unspecific "myopathic" degeneration of muscle fibers and a slight accumulation of lipid droplets. Carnitine content was markedly reduced in muscle and moderately in plasma. Both prednisone and carnitine therapies were unable to improve the heart insufficiency, and the patient died 1 year after the acute episode of rhabdomyolysis.
D000293:Adolescent; D000768:Anesthesia, General / Q000009:adverse effects*; D009202:Cardiomyopathies / Q000209:etiology*; D002331:Carnitine / Q000172:deficiency*; D002334:Carnitine O-Palmitoyltransferase / Q000378:metabolism; D006333:Heart Failure / Q000209:etiology; D006801:Humans; D050356:Lipid Metabolism; D008297:Male; D008305:Malignant Hyperthermia / Q000150:complications; D009132:Muscles / Q000378:metabolism / Q000473:pathology; D009135:Muscular Diseases / Q000209:etiology*
D002334:Carnitine O-Palmitoyltransferase; D002331:Carnitine