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Disease Report for: 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|8 mutations (e.g. : F300L_human-PNLIP, F314L_human-PNLIP, H92N_human-PNLIP... more)
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

References
    Title: Novel homozygous mutation of PNLIP gene in congenital pancreatic lipase deficiency: an extended family study
    Kamal NM, Saadah OI, Alheraiti SS, Attar R, Alsufyani AD, El-Shabrawi MHF, Sherief LM
    Ref: Ther Adv Chronic Dis, 13:20406223221078757, 2022 : PubMed

            

    Title: Protease-Sensitive Pancreatic Lipase Variants Are Associated With Early Onset Chronic Pancreatitis
    Lasher D, Szabo A, Masamune A, Chen JM, Xiao X, Whitcomb DC, Barmada MM, Ewers M, Ruffert C and Sahin-Toth M <19 more author(s)>
    Ref: Am J Gastroenterol, 114:974, 2019 : PubMed

            

    Title: A novel mutation in PNLIP causes pancreatic triglyceride lipase deficiency through protein misfolding
    Szabo A, Xiao X, Haughney M, Spector A, Sahin-Toth M, Lowe ME
    Ref: Biochimica & Biophysica Acta, 1852:1372, 2015 : PubMed

            

    Title: Identification of a novel mutation in the PNLIP gene in two brothers with congenital pancreatic lipase deficiency
    Behar DM, Basel-Vanagaite L, Glaser F, Kaplan M, Tzur S, Magal N, Eidlitz-Markus T, Haimi-Cohen Y, Sarig G and Zeharia A <2 more author(s)>
    Ref: J Lipid Res, 55:307, 2014 : PubMed

            

    Title: Assignment of human pancreatic lipase gene (PNLIP) to chromosome 10q24-q26
    Davis RC, Diep A, Hunziker W, Klisak I, Mohandas T, Schotz MC, Sparkes RS, Lusis AJ
    Ref: Genomics, 11:1164, 1991 : PubMed

            

    Title: Isolated lipase and colipase deficiency in two brothers
    Ligumsky M, Granot E, Branski D, Stankiewicz H, Goldstein R
    Ref: Gut, 31:1416, 1990 : PubMed

            

    Title: Isolated congenital lipase-colipase deficiency
    Ghishan FK, Moran JR, Durie PR, Greene HL
    Ref: Gastroenterology, 86:1580, 1984 : PubMed

            

    Title: Isolated co-lipase deficiency in two brothers
    Hildebrand H, Borgstrom B, Bekassy A, Erlanson-Albertsson C, Helin I
    Ref: Gut, 23:243, 1982 : PubMed

            

    Title: Congenital pancreatic lipase deficiency
    Figarella C, de Caro A, Leupold D, Poley JR
    Ref: J Pediatr, 96:412, 1980 : PubMed

            

    Title: [A new case of congenital pancreatic lipase deficiency with presence of colipase (author's transl)]
    Figarella C, de Caro A, Deprez P, Bouvry M, Bernier JJ
    Ref: Gastroenterol Clin Biol, 3:43, 1979 : PubMed

            

    Title: Proceedings: Studies on the mechanism of fat absorption in congenital isolated lipase deficiency
    Muller DP, McCollum JP, Trompeter RS, Harries JT
    Ref: Gut, 16:838, 1975 : PubMed

            

    Title: Presence of colipase in a congenital pancreatic lipase deficiency
    Figarella C, Negri GA, Sarles H
    Ref: Biochimica & Biophysica Acta, 280:205, 1972 : PubMed

            

    Title: Vitamin B 12 malabsorption in chronic pancreatic insufficiency
    Toskes PP, Hansell J, Cerda J, Deren JJ
    Ref: N Engl J Med, 284:627, 1971 : PubMed

            

    Title: [Chronic steatorrhea in children due to a congenital insufficiency of pancreatic lipase]
    Verger P, Babin R, Guillard JM, Babin JP, Cixous P, Laigle JL
    Ref: Arch Fr Pediatr, 28:992, 1971 : PubMed

            

    Title: [Chronic diarrhea due to pancreatic lipase deficiency]
    Larbre F, Hartemann E, Cotton JB, Mathieu M, Charrat A, Moreau P
    Ref: Pediatrie, 24:807, 1969 : PubMed

            

    Title: [Congenital absence of pancreatic lipase]
    Rey J, Frezal J, Royer P, Lamy M
    Ref: Arch Fr Pediatr, 23:5, 1966 : PubMed

            

    Title: CONGENITAL PANCREATIC LIPASE DEFICIENCY
    Sheldon W
    Ref: Arch Dis Child, 39:268, 1964 : PubMed

            


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Mail to: Nicolas Lenfant, Thierry Hotelier, Yves Bourne, Pascale Marchot and Arnaud Chatonnet.
Please cite: Lenfant 2013 Nucleic.Acids.Res. or Marchot Chatonnet 2012 Prot.Pept Lett.
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