title: Neonatal intrahepatic cholestasis caused by citrin deficiency in Korean infants.
abstract: 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 galactosemia, and thus were diagnosed as having NICCD. Two of these three showed failure to thrive. The laboratory findings showed hypoproteinemia and hyperammonemia, and liver biopsies revealed micro-macrovesicular fatty liver and cholestasis. The three patients each harbored compound heterozygous 1,638-1,660 dup/ S225X mutation, compound heterozygous 851del4/S225X mutation, and heterozygous 1,638-1,660 dup mutation, respectively. With nutritional manipulation, liver functions were normalized and catch-up growth was achieved. NICCD should be considered in the differential diagnosis of cholestatic jaundice in Korean infants.
authors.affiliation: Department of Pediatrics, Seoul National University College of Medicine, Seoul, Korea.
authors.forename: Jae Sung
authors.initials: JS
authors.lastname: Ko
authors.forename: Jung Han
authors.initials: JH
authors.lastname: Song
authors.forename: Sung Sup
authors.initials: SS
authors.lastname: Park
authors.forename: Jeong Kee
authors.initials: JK
authors.lastname: Seo
mesh_terms: D000596:Amino Acids / Q000097:blood; D002135:Calcium-Binding Proteins / Q000172:deficiency*; D002780:Cholestasis, Intrahepatic / Q000209:etiology* / Q000235:genetics; D020159:Citrullinemia / Q000235:genetics; D006801:Humans; D007223:Infant; D026901:Membrane Transport Proteins / Q000235:genetics; D033681:Mitochondrial Membrane Transport Proteins; D024101:Mitochondrial Proteins / Q000235:genetics; D009154:Mutation; D027361:Organic Anion Transporters / Q000172:deficiency*
chemical_list: D000596:Amino Acids; D002135:Calcium-Binding Proteins; D026901:Membrane Transport Proteins; D033681:Mitochondrial Membrane Transport Proteins; D024101:Mitochondrial Proteins; D027361:Organic Anion Transporters; C119629:SLC25A13 protein, human; C008822:citrin