title: Carnitine palmitoyltransferase II deficiency: a new cause of recurrent pancreatitis.
abstract: 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.
authors.affiliation: Division of Neurology, Hospital for Sick Children, Toronto, Ontario, Canada.
authors.forename: I
authors.initials: I
authors.lastname: Tein
authors.forename: J
authors.initials: J
authors.lastname: Christodoulou
authors.forename: E
authors.initials: E
authors.lastname: Donner
authors.forename: R R
authors.initials: RR
authors.lastname: McInnes
mesh_terms: D000208:Acute Disease; D000293:Adolescent; D002334:Carnitine O-Palmitoyltransferase / Q000172:deficiency*; D005260:Female; D006801:Humans; D010195:Pancreatitis / Q000201:enzymology / Q000209:etiology*; D012008:Recurrence
chemical_list: D002334:Carnitine O-Palmitoyltransferase