Myoglobinuria in carnitine palmityltransferase deficiency.
An 18-year-old male developed recurrent myoglobinuria after prolonged physical exertion. Histochemical analysis of biopsied muscle revealed complete absence of carnitine palmityltransferase. Significant ultrastructural abnormalities of muscle were present, but these could be the result of the recent episode of rhabdomyolysis. Recurrent myoglobinuria can occur in several disorders of glycogen and lipid metabolism in muscle, and such disorders should be suspected in cases of unexplained recurrent myoglobinuria.
D000217:Acyltransferases / Q000172:deficiency*; D000293:Adolescent; D002334:Carnitine O-Palmitoyltransferase / Q000172:deficiency*; D006801:Humans; D008297:Male; D008854:Microscopy, Electron; D009132:Muscles / Q000201:enzymology / Q000473:pathology; D009212:Myoglobinuria / Q000201:enzymology* / Q000473:pathology; D005082:Physical Exertion; D012008:Recurrence
D000217:Acyltransferases; D002334:Carnitine O-Palmitoyltransferase