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=Volume 11 - 2023

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=Introduction: 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(DGAT1) gene. Case Descriptions: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. Diagnostic Assessments: High-MCT milk powder did not obtain an ideal outcome, whereas lowfat diets improved the symptoms of diarrhea and increased the body weigths.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.