[Muscular carnitine-palmityl-transferase deficiency].
Deficiency in carnitine-palmityl-transferase (CPT) was demonstrated in a 20-year-old man with paroxysmal myoglobinuria, after failure to discover another cause. It is concluded that muscular CPT deficiency must be excluded before a recurrent myoglobinuria is classified as "idiopathic".
D000217:Acyltransferases / Q000172:deficiency*; D000328:Adult; D002334:Carnitine O-Palmitoyltransferase / Q000172:deficiency*; D004576:Electromyography; D006801:Humans; D008297:Male; D009132:Muscles / Q000201:enzymology*; D009212:Myoglobinuria / Q000209:etiology*
D000217:Acyltransferases; D002334:Carnitine O-Palmitoyltransferase
Muskulärer Carnitin-Palmityl-Transferase-Mangel.