Progress in mechanisms of citrin deficiency
10.3760/cma.j.issn.1673-4408.2010.02.035
- VernacularTitle:Citrin缺乏症发病机制的研究进展
- Author:
Yazhi XING
;
Wenjuan QIU
- Publication Type:Journal Article
- Keywords:
Citrin deficiency;
SLC25A13 gene;
TypeⅡcitrullinemia;
Neonatal intrahepatic cholestasis
- From:
International Journal of Pediatrics
2010;37(2):218-221
- CountryChina
- Language:Chinese
-
Abstract:
Citrin deficiency is an autosomal recessive disorder caused by mutations of the SLC25A13 gene.As a calcium binding mitochondrial aspartate glutamate carrier,Citrin plays an important role not only in the urea synthesis but NADH shuttle as well.Citrin deficiency has two phenotypes:adult-onset typeⅡcitrullinemia and neonatal intrahepatic cholestasis.Citrin deficiency is a common congenital metabolic defect first found in Japan and now is considered as a global disease.
