Carnitine palmitoyltransferase II deficiency: a new cause of recurrent pancreatitis

J Pediatr. 1994 Jun;124(6):938-40. doi: 10.1016/s0022-3476(05)83187-7.

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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Acute Disease
  • Adolescent
  • Carnitine O-Palmitoyltransferase / deficiency*
  • Female
  • Humans
  • Pancreatitis / enzymology
  • Pancreatitis / etiology*
  • Recurrence

Substances

  • Carnitine O-Palmitoyltransferase