• Title of article

    Screening of nine SLC25A13 mutations: their frequency in patients with citrin deficiency and high carrier rates in Asian populations

  • Author/Authors

    Reichardt، Juergen K. V. نويسنده , , Kobayashi، Keiko نويسنده , , Lu، Yao Bang نويسنده , , Li، Meng Xian نويسنده , , Nishi، Ikumi نويسنده , , Hsiao، Kwang-Jen نويسنده , , Choeh، Kyuchul نويسنده , , Yang، Yanling نويسنده , , Hwu، Wuh-Liang نويسنده , , Palmieri، Ferdinando نويسنده ,

  • Issue Information
    روزنامه با شماره پیاپی سال 2003
  • Pages
    -355
  • From page
    356
  • To page
    0
  • Abstract
    Deficiency of citrin encoded by SLC25A13 causes adult-onset type II citrullinemia (CTLN2) and idiopathic neonatal hepatitis (NICCD). So far we have diagnosed 126 (3) CTLN2 and 103 (4) NICCD patients in Japan (and other countries). From preliminary population analysis of the known nine SLC25A13 mutations, we found that the carrier frequency is high in China (1/79), Taiwan (1/98), and Korea (1/50) as well as Japan (1/69), suggesting that many patients with citrin deficiency exist in East Asia.
  • Keywords
    SLC25A13 , Malate aspartate shuttle , Mitochondrial solute carrier , Urea cycle , Adult-onset type II citrullinemia , Argininosuccinate synthetase , Cholestatic jaundice , Aspartate glutamate carrier , Citrin , Neonatal hepatitis
  • Journal title
    MOLECULAR GENETICS AND METABOLISM
  • Serial Year
    2003
  • Journal title
    MOLECULAR GENETICS AND METABOLISM
  • Record number

    87488

    • Link To Document
    https://search.isc.ac/dl/search/defaultta.aspx?DTC=10&DC=87488