Severe pancreatic dysfunction but compensated nutritional status in monogenic pancreatic disease caused by carboxyl-ester lipase mutations.

ObjectivesThe impact of pancreatic dysfunction in several diseases of the pancreas, including chronic pancreatitis and cystic fibrosis, is obscured by concomitant extra-pancreatic disease. Carboxyl-ester lipase–maturity-onset diabetes in the young (CEL-MODY) is a monogenic, highly penetrant and prog