DGAT1 mutations leading to delayed chronic diarrhoea: a case report
Open Access
- 1 December 2020
- journal article
- research article
- Published by Springer Science and Business Media LLC in BMC Medical Genetics
- Vol. 21 (1), 1-7
- https://doi.org/10.1186/s12881-020-01164-1
Abstract
Early-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. 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. This case expanded our knowledge of the clinical features of patients with DGAT1 mutations. Intractable diarrhoea with delayed onset could also be a congenital disorder.Keywords
This publication has 21 references indexed in Scilit:
- Clinical and genetic spectrum of children with congenital diarrhea and enteropathy in ChinaGenetics in Medicine, 2019
- Biomarkers of Systemic Inflammation and Growth in Early Infancy are Associated with Stunting in Young Tanzanian ChildrenNutrients, 2018
- Phenotypic and genotypic characterization of inflammatory bowel disease in children under six years of age in ChinaWorld Journal of Gastroenterology, 2018
- Congenital Diarrhea From DGAT1 Mutation Leading to Electrolyte Derangements, Protein‐losing Enteropathy, and RicketsJournal of Pediatric Gastroenterology and Nutrition, 2018
- Breast milk nutrient content and infancy growthActa Paediatrica, 2016
- Impaired antibacterial autophagy links granulomatous intestinal inflammation in Niemann–Pick disease type C1 and XIAP deficiency with NOD2 variants in Crohn's diseaseGut, 2016
- Congenital protein losing enteropathy: an inborn error of lipid metabolism due to DGAT1 mutationsEuropean Journal of Human Genetics, 2016
- DGAT1 mutation is linked to a congenital diarrheal disorderJCI Insight, 2012
- Intestinal DGAT1 deficiency reduces postprandial triglyceride and retinyl ester excursions by inhibiting chylomicron secretion and delaying gastric emptyingJournal of Lipid Research, 2012
- Direct measurement of the rates of synthesis of plasma proteins in control subjects and patients with gastrointestinal protein lossJCI Insight, 1968