AB083. A cause of cholestasis and hepatic failure in children: neonatal intrahepatic cholestasis cause by citrin deficiency

摘要

Background and objectiveNeonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) is rare disease. It is a novel metabolism disease which caused by deficiency of citrin, a liver-type mitochondrial aspartate-glutamate carrier encoded by the SLC25A13 gene. Citrin deficiency causes NICCD and adult-onset type II citrullinemia (CTLN2) with severe hepatic-neurology syndrome. The study presents some clinical features, laboratory finding, results molecular analysis and following process of 96 NICCD.