ArticleFrontiers in pediatrics2023
Case report: Diagnosis and treatment of DGAT1 deficiency-induced congenital diarrhea in two cases and literature review.
Article in Frontiers in pediatrics, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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Who cites it
4 citing papers in PubMed, 6 citations in OpenAlex.
- Case Report: DGAT1 deficiency in three infants including a novel missense variant: structural insights and comparison with reported cases.Frontiers in pediatrics · 2026Article
- Ethical challenges in paediatric care: Leveraging the Malaysian Child Act 2001 for life-saving decisions - A case report.Malaysian family physician : the official journal of the Academy of Family Physicians of Malaysia · 2025Article
- A low-fat amino acid diet reverses intestinal failure and shows good growth trends in five infants with diacylglycerol transferase 1 (DGAT1) deficiency: a prospective cohort study.Lipids in health and disease · 2024Article
- DGAT1 Mutation Associated With Congenital Diarrhea in a Pediatric Patient: A Case Report.Cureus · 2024Article
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
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 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 low-fat diets improved the symptoms of diarrhea and increased the body weigths. Disscussion: 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.
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