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.