Abstract 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.

Luojia Xu

Weizhong Gu

Youyou Luo

Jingan Lou

Jie Chen

BMC Medical Genetics

BMC MEDICAL GENETICS 是一本开放获取期刊，发表有关个人、家庭和人群之间遗传变异对人类健康和疾病的影响的原创同行评审研究文章。

BMC Medical Genetics is an open-access journal that publishes original peer-reviewed research articles on the impact of genetic variations among individuals, families, and populations on human health and disease.

BMC Medical Genetics 是一本开放获取的期刊，专注于发表原创的同行评审研究文章，探讨个人、家庭和人群之间的遗传变异如何影响人类健康和疾病。

Category	Quartile
医学	4
医学, 遗传学	4

DGAT1 mutations leading to delayed chronic diarrhoea: a case report

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