title: Hepatic steatosis and neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) in Taiwanese infants.
abstract: OBJECTIVE
  To explore the prevalence of hepatic steatosis and neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) in Taiwanese infants with idiopathic intrahepatic cholestasis.
  
  
  METHODS
  The liver specimens from 69 infants with idiopathic intrahepatic cholestasis were reviewed (1993-2004); 11 of them (14.7%) had hepatic steatosis. Six patients with hepatic steatosis participated in the genetic study for the SLC25A13 gene under parental consent.
  
  
  RESULTS
  Infants with cholestasis and hepatic steatosis had lower aspartate aminotransferase (AST) and alanine aminotransferase (ALT) levels than those with cholestasis alone. Three of the six infants in the genetic study had homozygous 851del4 mutation; for the others, homozygous 1638ins23 mutation, compound heterozygous 851del4/IVS6+5G-->A mutation, and heterozygous IVS6+5G-->A mutation were found for each one. Eleven of the total 12 alleles (91.7%) were demonstrated to have SLC25A13 gene mutations.
  
  
  CONCLUSIONS
  Metabolic and genetic studies for NICCD should be performed in Asian infants with idiopathic intrahepatic cholestasis and hepatic steatosis. The 851del4 mutation on the SLC25A13 gene accounts for the major genotype expression of patients with NICCD in Taiwan.
authors.affiliation: Department of Pediatrics, Department of Pathology, National Taiwan University Hospital, Taipei, Taiwan.
authors.forename: Jiun-Nan
authors.initials: JN
authors.lastname: Yeh
authors.forename: Yung-Ming
authors.initials: YM
authors.lastname: Jeng
authors.forename: Huey-Lin
authors.initials: HL
authors.lastname: Chen
authors.forename: Yen-Hsuan
authors.initials: YH
authors.lastname: Ni
authors.forename: Wuh-Liang
authors.initials: WL
authors.lastname: Hwu
authors.forename: Mei-Hwei
authors.initials: MH
authors.lastname: Chang
mesh_terms: D044466:Asian People / Q000235:genetics*; D002135:Calcium-Binding Proteins / Q000172:deficiency; D002780:Cholestasis, Intrahepatic / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D005234:Fatty Liver / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008111:Liver Function Tests; D008297:Male; D026901:Membrane Transport Proteins / Q000235:genetics*; D033681:Mitochondrial Membrane Transport Proteins; D024101:Mitochondrial Proteins / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D027361:Organic Anion Transporters / Q000172:deficiency; D016133:Polymerase Chain Reaction; D013624:Taiwan
chemical_list: 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