{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["21(1)"],"submitter":["Xu L"],"pubmed_abstract":["<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 "],"journal":["BMC medical genetics"],"pagination":["239"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC7708908"],"repository":["biostudies-literature"],"pubmed_title":["DGAT1 mutations leading to delayed chronic diarrhoea: a case report."],"pmcid":["PMC7708908"],"pubmed_authors":["Xu L","Chen J","Gu W","Luo Y","Lou J"],"additional_accession":[]},"is_claimable":false,"name":"DGAT1 mutations leading to delayed chronic diarrhoea: a case report.","description":"<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 ","dates":{"release":"2020-01-01T00:00:00Z","publication":"2020 Dec","modification":"2026-05-08T16:01:17.672Z","creation":"2021-02-20T03:05:50Z"},"accession":"S-EPMC7708908","cross_references":{"pubmed":["33261563"],"doi":["10.1186/s12881-020-01164-1"]}}