Biochemical characteristics of neonatal cholestasis induced by citrin deficiency.

ABSTRACT:

Aim

To explore differences in biochemical indices between neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) and that with other etiologies.

Methods

Patients under 6 mo of age who were referred for investigation of conjugated hyperbilirubinaemia from June 2003 to December 2010 were eligible for this study. After excluding diseases affecting the extrahepatic biliary system, all patients were screened for the two most common SLC25A13 mutations; the coding exons of the entire SLC25A13 gene was sequenced and Western blotting of citrin protein performed in selected cases. Patients in whom homozygous or compound heterozygous SLC25A13 mutation and/or absence of normal citrin protein was detected were defined as having NICCD. Cases in which no specific etiological

SUBMITTER: Wang JS 

PROVIDER: S-EPMC3482648 | biostudies-literature | 2012 Oct

REPOSITORIES: biostudies-literature