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Article

A novel nutritional approach to infants and children with congenital diarrhea due to homozygous DGAT1 mutations.

Journal of pediatric gastroenterology and nutrition - 1 Aug 2024

Millman Peri, Rimon Ramit M, Toff Chani, Engvall Martin, Shaoul Ron, Wilschanski Michael, Elyashar Hila, Winter Harland S

Abstract excerpt

OBJECTIVES: Diacylglycerol acyltransferase (DGAT) catalyzes the final step in triglyceride synthesis. DGAT1 is expressed in human enterocytes and is essential for fat absorption. Homozygous DGAT1 deficiency often presents with severe diarrhea and protein-losing enteropathy (PLE) in the 1st weeks of life. Because severe restriction of fat intake controls diarrhea and decreases PLE, total parenteral nutrition (TPN)...

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Source

Identifiers

PMID: 38934410
DOI: 10.1002/jpn3.12241

Genes

DGAT1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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