Cramps following exercise.
A 13-year old boy presented with a 10-year history of severe muscle cramps experienced an hour after prolonged exercise. There was no history of exercise intolerance or myoglobinuria. A muscle biopsy showed a lipid myopathy and a deficiency of muscle carnitine palmityl transferase. He has responded to a high carbohydrate, low fat diet with added carbohydrate intake preceding extensive exercise. Diagnosis of this entity before an episode of rhabdomyolysis is unusual.
Bye
A M
AM
Department of Neurology, Children's Hospital, Camperdown, New South Wales, Australia.
Kan
A E
AE
D000217:Acyltransferases / Q000172:deficiency*; D000293:Adolescent; D001706:Biopsy; D002334:Carnitine O-Palmitoyltransferase / Q000172:deficiency*; D015444:Exercise; D006801:Humans; D008297:Male; D009120:Muscle Cramp / Q000201:enzymology / Q000209:etiology*
D000217:Acyltransferases; D002334:Carnitine O-Palmitoyltransferase