AUTHOR=Li Jian , Sun Mei , Guo Jing , Xu Lingfen 

TITLE=Case report: Diagnosis and treatment of DGAT1 deficiency-induced congenital diarrhea in two cases and literature review

JOURNAL=Frontiers in Pediatrics

VOLUME=11

YEAR=2023

URL=https://www.frontiersin.org/journals/pediatrics/articles/10.3389/fped.2023.1253800

DOI=10.3389/fped.2023.1253800

ISSN=2296-2360

ABSTRACT=<sec><title>Introduction</title><p>Congenital diarrhea is a rare inherited intestinal disease characterized by persistent and severe diarrhea and malabsorption in the first few weeks after birth, which can be life-threatening. Some congenital diarrheal diseases are associated with mutations in the diacylglycerol acyltransferase 1 <italic>(DGAT1)</italic> gene.</p></sec><sec><title>Case descriptions</title><p>This study delineated 2 cases of diarrhea and growth retardation, subsequently confirmed as congenital diarrhea via genetic testing, revealing that the etiology involved compound heterozygous mutations in the DGAT1 gene.</p></sec><sec><title>Diagnostic assessments</title><p>High-MCT milk powder did not obtain an ideal outcome, whereas low-fat diets improved the symptoms of diarrhea and increased the body weigths.</p></sec><sec><title>Disscussion</title><p>The two cases facilitated our understanding of the clinical features of, and treatments for, patients harboring a DGAT1 mutation and enriched the existing DGAT1 mutation database.</p></sec>