Article
Congenital protein losing enteropathy: an inborn error of lipid metabolism due to DGAT1 mutations.
European journal of human genetics : EJHG - 1 Aug 2016
Stephen Joshi, Vilboux Thierry, Haberman Yael, Pri-Chen Hadass, Pode-Shakked Ben, Mazaheri Sina, Marek-Yagel Dina, Barel Ortal, Di Segni Ayelet, Eyal Eran, Hout-Siloni Goni, Lahad Avishay, Shalem Tzippora, Rechavi Gideon, Malicdan May Christine V, Weiss Batia, Gahl William A, Anikster Yair
Abstract excerpt
Protein-losing enteropathy (PLE) is a clinical disorder of protein loss from the gastrointestinal system that results in hypoproteinemia and malnutrition. This condition is associated with a wide range of gastrointestinal disorders. Recently, a unique syndrome of congenital PLE associated with biallelic mutations in the DGAT1 gene has been reported in a single family. We hypothesize that mutations in this gene...
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