DGAT1 mutations leading to delayed chronic diarrhoea: a case report
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CASE REPORT
Open Access
DGAT1 mutations leading to delayed chronic diarrhoea: a case report Luojia Xu1, Weizhong Gu2, Youyou Luo1, Jingan Lou1 and Jie Chen1*
Abstract Background: Early-onset chronic diarrhoea often indicates a congenital disorder. Mutation in diacylglycerol oacyltransferase 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. Keywords: Infantile diarrhoea, Failure to thrive, Genetics, Diacylglycerol o-acyltransferase, Case report
Background Chronic diarrhoea is defined as diarrhoea lasting longer than 2 weeks [1]. The aetiology of chronic diarrhoea varies [1]. A group of chronic diarrhoea disorders may occur in early infancy and can be termed “congenital diarrhoea” [1]. Many patients with disorders in this group are affected by monogenic disorders that primarily affect the intestinal epithelium or secondarily affect intestinal epithelial function [1]. With the increasing use of next-generation sequencing in clinical practice, many monogenic disorders that cause chronic diarrhoea have been revealed. One of these monogenic disorders is caused by a mutation in the diacylglycerol o-acyltransferase 1 (DGAT1) gene (MIM #: 604900). The DGAT1 gene encodes diacylglycerol o* Correspondence: [email protected] 1 Present Address: Department of Gastroenterology, Children’s Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, No.3333, Binsheng Road, Hangzhou, Zhejiang Province, PR China Full list of author information is available at the end of the article
acyltransferase 1 (DGAT1), which is a microsomal enzyme with high expression in the small intestine, adrenal cortex, adrenal medulla, and testes [2]. DGAT1 and its isozyme DGAT2 catalyse the final step in triglyceride (TG) synthesis by using diacylglycerol (DAG) and fatty acyl CoA in humans [3] and help to absorb TGs in the small intestine [2]. However, in humans, only DGAT1 is highly expressed in the intestine [4]. Recent studies have shown that DGAT1 mutation is linked to chronic and severe diarrhoea that mostly develops in the neonatal period [4–7] or within 2 months after birth [7, 8]. Herein, we report a female patient who had delayed-onset
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