Congenital diarrhea and enteropathies caused by DGAT1 deficiency and nutritional therapy
10.3760/cma.j.issn.1673-4408.2024.08.001
- VernacularTitle:二酰基甘油酰基转移酶1基因缺陷致先天性腹泻与肠病及其营养治疗
- Author:
Luojia XU
1
;
Youyou LUO
;
Jie CHEN
Author Information
1. 浙江大学医学院附属儿童医院消化内科 国家儿童健康与疾病临床医学研究中心，杭州 310052
- Keywords:
Infants;
Congenital diarrhea and enteropathies;
Diacylglycerol o-acyltransferase 1;
Nutritional therapy;
Gene mutation
- From:
International Journal of Pediatrics
2024;51(8):503-507
- CountryChina
- Language:Chinese
-
Abstract:
Diacylglycerol o-acyltransferase 1（DGAT1）is the key enzyme in fat metabolism.When DGAT1 gene who encodes this enzyme is mutated，it can affect the intracellular fat metabolism in organism with various clinical manifestations.DGAT1 gene deficiency is one of the causes of congenital diarrhea and enteropathies.The onset age in patients with DGAT1 deficiency is early.The main clinical manifestations of such patients include protein-losing enteropathy，malnutrition and other nutritional disorders.There is no specific drug for such disease so far.Early identification of DGAT1 deficiency and nutritional therapy in early infancy can treat this disease effectively and improve the prognosis.
