Phenotypic and genotypic characterization of DGAT1 deficiency in pediatric patients with congenital diarrhea and enteropathy

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.