ArticleBMC medical genetics2020
DGAT1 mutations leading to delayed chronic diarrhoea: a case report.
Article in BMC medical genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed, 19 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
- Combined Genetic and Transcriptional Study Unveils the Role ofBiomedicines · 2025Article
- Protein-losing enteropathy with congenital kidney stones in a 2-month-old boy: a rare case report and literature review.BMC medical genomics · 2024Review
- 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
- Diet management in congenital diarrheas and enteropathies - general concepts and disease-specific approach, a narrative review.The American journal of clinical nutrition · 2024Review
- Novel DGAT1 Mutations Identified in Congenital Diarrheal Disorder 7: A Case Report with Therapeutic Experience.Balkan journal of medical genetics : BJMG · 2024Article
- Host fecal DNA specific methylation signatures mark gut dysbiosis and inflammation in children affected by autism spectrum disorder.Scientific reports · 2023Article
- Beyond IBD: the genetics of other early-onset diarrhoeal disorders.Human genetics · 2023Review
- The genetics of monogenic intestinal epithelial disorders.Human genetics · 2023Review
- Case report: Diagnosis and treatment of DGAT1 deficiency-induced congenital diarrhea in two cases and literature review.Frontiers in pediatrics · 2023Article
- Apoptotic enteropathy, gluten intolerance, and IBD-like inflammation associated with lipotoxicity in DGAT1 deficiency-related diarrhea: a case report of a 17-year-old patient and literature review.Virchows Archiv : an international journal of pathology · 2022Review
- From Congenital Disorders of Fat Malabsorption to Understanding Intra-Enterocyte Mechanisms Behind Chylomicron Assembly and Secretion.Frontiers in physiology · 2021Review
Corrections and comments
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundEarly-onset chronic diarrhoea often indicates a congenital disorder. Mutation in diacylglycerol o-acyltransferase 1 (DGAT1) has recently been linked to early-onset chronic diarrhoea. To date, only a few cases of DGAT1 deficiency have been reported. Diarrhoea in those cases was severe and developed in the neonatal period or within 2 months after birth. CASE PRESENTATION: Here, we report a female patient with DGAT1 mutations with delayed-onset chronic diarrhoea. The patient had vomiting, hypoalbuminemia, hypertriglyceridemia, and failure to thrive at early infancy. Her intractable chronic diarrhoea occurred until she was 8 months of age. A compound heterozygous DGAT1 mutation was found in the patient, which was first found in the Chinese population. Her symptoms and nutrition status improved after nutritional therapy, including a fat restriction diet.
conclusionsThis case expanded our knowledge of the clinical features of patients with DGAT1 mutations. Intractable diarrhoea with delayed onset could also be a congenital disorder.
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