Recurrent exertional myalgia and myoglobinuria due to carnitine palmityltransferase deficiency.
D000217:Acyltransferases / Q000172:deficiency*; D000328:Adult; D002334:Carnitine O-Palmitoyltransferase / Q000172:deficiency*; D006801:Humans; D008297:Male; D009135:Muscular Diseases / Q000150:complications / Q000175:diagnosis* / Q000503:physiopathology; D009212:Myoglobinuria / Q000150:complications
D000217:Acyltransferases; D002334:Carnitine O-Palmitoyltransferase