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 th e ages of 12 and 15 years. After the onset of recurrent myoglobinuria when she was 16 years aid, deficiency of carnitine palmitoyltransferas e type II (32% residual activity) was diagnosed on the basis of cultur ed skin fibroblasts. We conclude that deficiency of carnitine palmitoy ltransferase type II may be a cause of pancreatitis and should be cons idered in the differential diagnosis, even in the absence of overt myo globinuria.