Pancreatic lipase deficiency

Common Name(s)

Pancreatic lipase deficiency

Congenital pancreatic lipase deficiency is a rare, monoenzymatic form of exocrine pancreatic failure. All reported patients have presented with similar symptoms and clinical findings, including oily/greasy stools from infancy or early childhood and the absence of discernible pancreatic disease. Failure to thrive has not been observed. Analyses of duodenal contents consistently show a marked decrease of pancreatic lipolytic activity (summary by {4:Figarella et al., 1980}).
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Pancreatic lipase deficiency" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Pancreatic lipase deficiency" returned 3 free, full-text research articles on human participants. First 3 results:

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

Author(s): András Szabó, Xunjun Xiao, Margaret Haughney, Alyssa Spector, Miklós Sahin-Tóth, Mark E Lowe

Journal: Biochim. Biophys. Acta. 2015 Jul;1852(7):1372-9.

 

Congenital pancreatic triglyceride lipase (PNLIP) deficiency is a rare disorder with uncertain genetic background as most cases were described before gene sequencing was readily available. Recently, two brothers with PNLIP deficiency were found to carry a homozygous missense mutation, ...

Last Updated: 31 Dec 1969

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

Author(s): 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.. 2014 Feb;55(2):307-12.

 

Congenital pancreatic lipase (PNLIP) deficiency is a rare monoenzymatic form of exocrine pancreatic failure characterized by decreased absorption of dietary fat and greasy voluminous stools, but apparent normal development and an overall good state of health. While considered to be ...

Last Updated: 31 Dec 1969

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CONGENITAL PANCREATIC LIPASE DEFICIENCY.
 

Author(s): W SHELDON

Journal: Arch. Dis. Child.. 1964 Jun;39():268-71.

 

Last Updated: 31 Dec 1969

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Reviews from the PubMed Database

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The terms "Pancreatic lipase deficiency" returned 0 free, full-text review articles on human participants.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

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