Ontology highlight
ABSTRACT:
SUBMITTER: Ko JS
PROVIDER: S-EPMC2694627 | biostudies-literature | 2007 Dec
REPOSITORIES: biostudies-literature
Ko Jae Sung JS Song Jung Han JH Park Sung Sup SS Seo Jeong Kee JK
Journal of Korean medical science 20071201 6
Citrin is a liver-type mitochondrial aspartate-glutamate carrier encoded by the SLC25A13 gene, and its deficiency causes adult-onset type II citrullinemia and neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD). Here, the authors investigated clinical findings in Korean infants with NICCD and performed mutation analysis on the SLC25A13 gene. Of 47 patients with neonatal cholestasis, three infants had multiple aminoacidemia (involving citrulline, methionine, and arginine) and ga ...[more]