希特林蛋白缺乏症代谢物组学研究进展

Research progress of metabolomics in citrin deficiency

希特林蛋白缺乏症(CD)是SLC25A13基因突变导致的一种常染色体隐性遗传病,是我国婴儿胆汁淤积症最重要病因之一。CD代谢机制复杂,涉及尿素循环、苹果酸天冬氨酸循环、柠檬酸苹果酸循环、脂肪酸代谢和糖代谢等多个代谢途径。代谢物组学通过分析代谢产物改变,在CD中已有一些应用。本文就CD代谢物组学研究进展作一综述。

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.