Literature DB >> 2265786

Isolated lipase and colipase deficiency in two brothers.

M Ligumsky1, E Granot, D Branski, H Stankiewicz, R Goldstein.   

Abstract

Two brothers of Arab origin, aged 15 and 10 years, with isolated congenital lipase and colipase deficiency are described. Both were normally developed with a history of passing greasy stools since early infancy. Both have remarkable steatorrhoea and low serum carotene and vitamin E concentrations. After exocrine pancreatic stimulation, lipase and colipase activities in the duodenal fluid were almost completely absent, while amylase trypsin, bile salt, and pH values were normal. No other aetiology for exocrine pancreatic insufficiency was found. This is the first report of congenital combined lipase and colipase deficiency in two brothers.

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Year:  1990        PMID: 2265786      PMCID: PMC1378769          DOI: 10.1136/gut.31.12.1416

Source DB:  PubMed          Journal:  Gut        ISSN: 0017-5749            Impact factor:   23.059


  23 in total

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Journal:  Gut       Date:  1975-10       Impact factor: 23.059

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Journal:  Arch Fr Pediatr       Date:  1971-11

5.  Evidence for a pancreatic pro-colipase and its activation by trypsin.

Authors:  B Borgström; T Wieloch; C Erlanson-Albertsson
Journal:  FEBS Lett       Date:  1979-12-15       Impact factor: 4.124

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Journal:  Biochim Biophys Acta       Date:  1972-09-07

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Journal:  Arch Fr Pediatr       Date:  1966-01

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Authors:  H Shwachman; E Lebenthal; K T Khaw
Journal:  Pediatrics       Date:  1975-01       Impact factor: 7.124

9.  Lipase and co-lipase activities of human small intestinal contents after a liquid test meal.

Authors:  B Brogström; H Hildebrand
Journal:  Scand J Gastroenterol       Date:  1975       Impact factor: 2.423

10.  Congenital pancreatic lipase deficiency.

Authors:  C Figarella; A De Caro; D Leupold; J R Poley
Journal:  J Pediatr       Date:  1980-03       Impact factor: 4.406

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  4 in total

1.  A novel mutation in PNLIP causes pancreatic triglyceride lipase deficiency through protein misfolding.

Authors:  András Szabó; Xunjun Xiao; Margaret Haughney; Alyssa Spector; Miklós Sahin-Tóth; Mark E Lowe
Journal:  Biochim Biophys Acta       Date:  2015-04-07

2.  The DHR96 nuclear receptor controls triacylglycerol homeostasis in Drosophila.

Authors:  Matthew H Sieber; Carl S Thummel
Journal:  Cell Metab       Date:  2009-12       Impact factor: 27.287

Review 3.  Congenital etiologies of exocrine pancreatic insufficiency.

Authors:  Isabelle Scheers; Silvia Berardis
Journal:  Front Pediatr       Date:  2022-07-22       Impact factor: 3.569

4.  Identification of a novel mutation in the PNLIP gene in two brothers with congenital pancreatic lipase deficiency.

Authors:  Doron M Behar; Lina Basel-Vanagaite; Fabian Glaser; Marielle Kaplan; Shay Tzur; Nurit Magal; Tal Eidlitz-Markus; Yishay Haimi-Cohen; Galit Sarig; Concetta Bormans; Mordechai Shohat; Avraham Zeharia
Journal:  J Lipid Res       Date:  2013-11-21       Impact factor: 5.922

  4 in total

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