biostudies-literatureUnknown21(1)Xu L<h4>Background</h4>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.<h4>Case presentation</h4>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 BMC medical genetics239https://www.ebi.ac.uk/biostudies/studies/S-EPMC7708908biostudies-literatureDGAT1 mutations leading to delayed chronic diarrhoea: a case report.PMC7708908Xu LChen JGu WLuo YLou JfalseDGAT1 mutations leading to delayed chronic diarrhoea: a case report.<h4>Background</h4>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.<h4>Case presentation</h4>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 2020-01-01T00:00:00Z2020 Dec2026-05-08T16:01:17.672Z2021-02-20T03:05:50ZS-EPMC77089083326156310.1186/s12881-020-01164-1