Human Genetics

, Volume 108, Issue 2, pp 87–90

Neonatal presentation of adult-onset type II citrullinemia

  • Toshihiro Ohura
  • Keiko Kobayashi
  • Yusaku Tazawa
  • Ikumi Nishi
  • Daiki Abukawa
  • Osamu Sakamoto
  • Kazuie Iinuma
  • Takeyori Saheki
Original Investigation

DOI: 10.1007/s004390000448

Cite this article as:
Ohura, T., Kobayashi, K., Tazawa, Y. et al. Hum Genet (2001) 108: 87. doi:10.1007/s004390000448

Abstract.

Adult-onset type II citrullinemia (CTLN2) is characterized by a liver-specific argininosuccinate synthetase deficiency caused by a deficiency of the citrin protein encoded by the SLC25A13 gene. Until now, however, no SLC25A13 mutations have been reported in children with liver diseases. We described three infants who presented as neonates with intrahepatic cholestasis associated with hypermethioninemia or hypergalactosemia detected by neonatal mass screening. DNA analyses of SLC25A13 revealed that one patient was a compound heterozygote for the 851del4 and IVS11+1G→A mutations and two patients (siblings) were homozygotes for the IVS11+1G→A mutation. These results suggested that there may be a variety of liver diseases related to CTLN2 in children.

Copyright information

© Springer-Verlag 2001

Authors and Affiliations

  • Toshihiro Ohura
    • 1
  • Keiko Kobayashi
    • 2
  • Yusaku Tazawa
    • 3
  • Ikumi Nishi
    • 2
  • Daiki Abukawa
    • 1
  • Osamu Sakamoto
    • 1
  • Kazuie Iinuma
    • 1
  • Takeyori Saheki
    • 2
  1. 1.Department of Pediatrics, Tohoku University School of Medicine, 1–1 Seiryo-machi, Aoba-ku, Sendai 980–8574, Japan
  2. 2.Department of Biochemistry, Faculty of Medicine, Kagoshima University, Kagoshima, Japan
  3. 3.Department of Pediatrics, Faculty of Medicine, Tottori University, Yonago, Japan