title: Isolated congenital lipase-colipase deficiency.
abstract: A 5-yr-old child with isolated combined pancreatic lipase and colipase deficiency is described. The patient has a history of passing oily stools since birth. Pancreatic stimulation tests showed that both lipase and colipase activities were less than 2% of normal control values. Despite the total lack of both enzymes, the patient's fat absorption coefficient was 50%. Fat absorption coefficient increased to 82% with pancreatic enzyme supplementation. This is the first report of congenital combined lipase and colipase deficiency.
mesh_terms: D002675:Child, Preschool; D003089:Colipases / Q000172:deficiency*; D006801:Humans; D008049:Lipase / Q000172:deficiency*; D008052:Lipid Metabolism, Inborn Errors / Q000175:diagnosis*; D008297:Male; D010186:Pancreatic Function Tests; D011488:Protein Deficiency
chemical_list: D003089:Colipases; D008049:Lipase