Title : Intestinal Failure and Aberrant Lipid Metabolism in Patients With DGAT1 Deficiency.

Pub. Date : 2018 Jul

PMID : 29604290






2 Functional Relationships(s)
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1 BACKGROUND & AIMS: Congenital diarrheal disorders are rare inherited intestinal disorders characterized by intractable, sometimes life-threatening, diarrhea and nutrient malabsorption; some have been associated with mutations in diacylglycerol-acyltransferase 1 (DGAT1), which catalyzes formation of triacylglycerol from diacylglycerol and acyl-CoA. Triglycerides diacylglycerol O-acyltransferase 1 Homo sapiens
2 In patient-derived fibroblasts and organoids, the mutations reduced expression of DGAT1 protein and altered triacylglycerol metabolism, resulting in decreased lipid droplet formation after oleic acid addition. Triglycerides diacylglycerol O-acyltransferase 1 Homo sapiens