Carnitine palmitoyltransferase II deficiency: a new cause of recurrent pancreatitis.
An 18-year-old female patient had a history of recurrent pancreatitis after prolonged periods of exercise coupled with a high-fat diet at the ages of 12 and 15 years. After the onset of recurrent myoglobinuria when she was 16 years old, deficiency of carnitine palmitoyltransferase type II (32% residual activity) was diagnosed on the basis of cultured skin fibroblasts. We conclude that deficiency of carnitine palmitoyltransferase type II may be a cause of pancreatitis and should be considered in the differential diagnosis, even in the absence of overt myoglobinuria.
Tein
I
I
Division of Neurology, Hospital for Sick Children, Toronto, Ontario, Canada.
Christodoulou
J
J
Donner
E
E
McInnes
R R
RR
D000208:Acute Disease; D000293:Adolescent; D002334:Carnitine O-Palmitoyltransferase / Q000172:deficiency*; D005260:Female; D006801:Humans; D010195:Pancreatitis / Q000201:enzymology / Q000209:etiology*; D012008:Recurrence
D002334:Carnitine O-Palmitoyltransferase