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Article

DGAT1 mutation in two sisters with failure to thrive: a case report.

Archivos argentinos de pediatria - 1 Feb 2023

Valentini M Agustina, Fedrizzi Valeria A, Krochik Andrea G, Abbate Silvina, Ferrari Mariela, Contreras Mónica B, El Kik Soraya, Araujo María B, Obregón María G

Abstract excerpt

Congenital diarrhea and enteropathies (CODEs) are a group of monogenic disorders that have been described in recent years. Within the CODEs, the mutation in the diacylglycerol O-acyltransferase 1 (DGAT1) gene is a rare enzyme disorder associated with severe, early-onset chronic diarrhea. Our objective is to describe the case of 2 sisters who consulted for chronic diarrhea, growth retardation, vomiting, and...

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Identifiers

PMID: 36315449
DOI: 10.5546/aap.2022-02606.eng

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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