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Neonatal intrahepatic cholestasis caused by citrin deficiency in Korean infants

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Authors
Ko, Jae Sung; Song, Jung Han; Park, Sung Sup; Seo, Jeong Kee
Issue Date
2007
Publisher
Korean Academy of Medical Science
Citation
J Korean Med Sci 2007; 22: 952-6
Keywords
Amino Acids/bloodCalcium-Binding Proteins/*deficiencyCholestasis, Intrahepatic/*etiology/geneticsCitrullinemia/geneticsMembrane Transport Proteins/geneticsMitochondrial Proteins/geneticsMutationOrganic Anion Transporters/*deficiency
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.
ISSN
1011-8934 (Print)
Language
English
URI
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=18162705

http://hdl.handle.net/10371/12134
DOI
https://doi.org/10.3346/jkms.2007.22.6.952
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College of Medicine/School of Medicine (의과대학/대학원)Laboratory Medicine (검사의학전공)Journal Papers (저널논문_검사의학전공)
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