Is ERCP a useful diagnostic tool in idiopathic pancreatitis?

Abstract

Carnitine is an essential co-factor that allows beta oxidation of fatty acids. and facilitates their transfer across the inner mitochondrial membrane. Our review of the literature found only lO patients reported with CPT-I deficiency. The usual age of presentation was between 8 to 18 months of age. Only 2 of the reported cases had elevated CPK without myoglobinuria. which was also seen in our patient. Symptoms with fasting include seizures. hepatomegaly, coma, and hypoketotic hypoglycemia. The diagnosis of CPT-I deficiency is with normal serum carnitine levels, and measurement of enzyme activity in fibroblasts. leukocytes or solid tissue. Treatment involves glucose infusion. frequent feeds. avoidance of fasting and dietary replacement of long chain fatty acids with medium chain fatty acids. To our knowledge this is the first reported case of pancreatitis associated with CPT-I deficiency.