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DGAT1 mutations leading to delayed chronic diarrhoea: a case report
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DGAT1 mutations leading to delayed chronic diarrhoea: a case report
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Journal Article
DGAT1 mutations leading to delayed chronic diarrhoea: a case report
2020
Overview
Background
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.
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.
Conclusions
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.
Publisher
BioMed Central,BioMed Central Ltd,BMC
Subject
/ Biomedical and Life Sciences
/ Biopsy
/ Blood
/ Clinical-Molecular Genetics and Cytogenetics
/ Diacylglycerol O-acyltransferase
/ Diacylglycerol O-Acyltransferase - deficiency
/ Diacylglycerol O-Acyltransferase - genetics
/ Diarrhea
/ Diseases
/ Failure to Thrive - diet therapy
/ Failure to Thrive - genetics
/ Failure to Thrive - metabolism
/ Failure to Thrive - physiopathology
/ Female
/ Genetics
/ Humans
/ Hypertriglyceridemia - diet therapy
/ Hypertriglyceridemia - genetics
/ Hypertriglyceridemia - metabolism
/ Hypertriglyceridemia - physiopathology
/ Hypoalbuminemia - diet therapy
/ Hypoalbuminemia - metabolism
/ Hypoalbuminemia - physiopathology
/ Infant
/ Lipids
/ Mutation
/ Neonates
/ Ostomy
/ Patients
/ Proteins
/ Vomiting
