Research progress of metabolomics in citrin deficiency
10.3760/cma.j.cn114452-20220315-00151
- VernacularTitle:希特林蛋白缺乏症代谢物组学研究进展
- Author:
Yi CHENG
1
;
Zinan YU
;
Xinwen HUANG
Author Information
1. 浙江大学医学院附属儿童医院遗传代谢科，国家儿童健康与疾病临床医学研究中心 国家儿童区域医疗中心，杭州 310052
- Keywords:
SLC25A13 protein,human;
Citrin deficiency;
Metabolomics;
Metabolome
- From:
Chinese Journal of Laboratory Medicine
2022;45(12):1297-1300
- CountryChina
- Language:Chinese
-
Abstract:
Citrin deficiency is an autosomal recessive disorder caused by mutation of the SLC25A13 gene, and is one of the most important causes of infant cholestasis in China. The metabolic mechanism of CD is complex, involving the urea cycle, the malate aspartate cycle, the citrate malate cycle, fatty acid metabolism, carbohydrate motabolism and other metabolic pathways. Metabolomics has some applications in CD by analyzing metabolite alterations. This article provides a review for research progress of metabolomics in CD.
