Congenital absence of pancreatic lipase

Alternative name(s) : Pancreatic lipase deficiency, PL deficiency, Risk early onset chronic pancreatitis, Risk nonalcoholic chronic pancreatitis

Gene_locus : human-PNLIP

Mutation : 10 mutations T221M_human-PNLIP F314L_human-PNLIP S304F_human-PNLIP F300L_human-PNLIP I265R_human-PNLIP P245A_human-PNLIP H92N_human-PNLIP W419X_human-PNLIP W102X_human-PNLIP R188C_human-PNLIP

OMIM : 246600 , 614338

Comment

Pancreatic lipase (EC 3.1.1.3), a 56-kD protein, is involved in the hydrolysis of dietary triglycerides to fatty acids in the intestine. This hydrolysis, which is initiated in the stomach by gastric lipase, is essential for the intestinal absorption of long-chain triglyceride fatty acids. Pancreatic colipase (120105) is a 12-kD cofactor that appears to overcome the inhibitory effects of intestinal bile salts on pancreatic lipase. Congenital pancreatic lipase deficiency is a rare, monoenzymatic form of exocrine pancreatic failure. Patients have oily\/greasy stools from infancy or early childhood and the absence of discernable pancreatic disease. Failure to thrive has not been observed. Analyses of duodenal contents consistently show a marked decrease of pancreatic lipolytic activity. Fat absorption in patients my may reach 79\%, suggesting that extrapancreatic sources of lipase, such as lingual and gastric lipase, may have an important compensating role in fat digestion. Pancreatic lipase deficiency can be combined with Colipase deficiency. Homozygote missense mutation, Thr221Met [c.662C>T], in two brothers from a consanguineous family. Mutation disrupts the protein's stability and impairs its normal function. Protease-sensitive pancreatic lipase variants are associated with early onset chronic pancreatitis. These variants were detected in young European cases but not in the Japanese, Indian and US cohorts