Advances of citrin deficiency
10.3760/cma.j.issn.1673-4408.2013.01.015
- VernacularTitle:Citrin缺陷病研究进展
- Author:
Yang WANG
- Publication Type:Journal Article
- Keywords:
Citrin deficiency;
Neonatal intrahepatic cholestasis;
Adult-onset type 2 citrullinemia
- From:
International Journal of Pediatrics
2013;(1):51-54
- CountryChina
- Language:Chinese
-
Abstract:
Citrin deficiency,caused by mutations in SLC25A13,is an autosomal recessive genetic disorder with two age-related phenotypes:adult-oneset type Ⅱ citrullinemia and neonatal intrahepatic cholestasis.Recently,it has been found mostly in individuals of East Asian ancestry.In south China,there is a high mutation carrier frequency especially.There is still a lack of criteria for clinical or biochemical diagnosis of this disease,gene analysis is the main basis of the current diagnosis consequently.Surging number of case reports indicate that Citrin deficiency is not a self-limited disease.Early diagnosis and proper treatments may improve the prognosis.This paper focuses on the current researches in order to make further comprehensiom.
