Gastroenterology report
Phenotypic and genotypic characterization of DGAT1 deficiency in pediatric patients with congenital diarrhea and enteropathy
By Wang Y, Zheng C, Yang Y and 7 others.
Abstract
Background
Diacylglycerol O-acyltransferase 1 (DGAT1) deficiency is a rare autosomal recessive disorder that disrupts intestinal triglyceride metabolism, leading to congenital diarrhea and enteropathy. This study aimed to characterize the phenotypic and genotypic spectrum of DGAT1 deficiency, evaluate the genotype-phenotype correlations, and assess outcomes following nutritional interventions.
Methods
We retrospectively analyzed 12 pediatric patients with DGAT1 deficiency diagnosed between 2016 and 2025. Clinical data, genetic profiles, management, and outcomes were collected. Whole-exome sequencing with Sanger validation was performed, and pathogenicity was classified according to the American College of Medical Genetics and Genomics criteria. A systematic review identified 58 previously reported patients. Kaplan-Meier survival analysis evaluated survival, and Fisher's exact test assessed associations between specific genetic variants and treatment responses.