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Diseases

Genetic and Rare Diseases Information Center (GARD)

Neonatal intrahepatic cholestasis caused by citrin deficiency


Other Names for this Disease
  • NICCD
  • Neonatal-onset citrullinemia type II
  • Citrin deficiency
  • Neonatal-onset citrullinemia type 2
  • Neonatal intrahepatic cholestasis due to citrin deficiency
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

News & Events


ORDR Co-Sponsored Conferences

  • 2016 Rare Disease Day at NIH, Monday, February 29, 2016
    Location: Building 10, Masur Auditorium, National Institutes of Health, Bethesda, MD
    Description: The 2016 Rare Disease Day at NIH will take place on February 29. The event, sponsored by NCATS and the NIH Clinical Center, aims to raise awareness about rare diseases, the patients they affect and the research collaborations that are addressing rare disease challenges. The day will feature tours, posters and exhibits, and presentations.

  • Urea Cycle Disorders Satellite Symposium to the 12th ICIEM, Sunday, September 01, 2013 - Monday, September 02, 2013
    Location: Barcelona, Spain
    Description: The goals of the conference are to; 1) Share data from the UCDC natural history study and comparable European and Japanese consortia studies to encourage increased collaborations that will improve patient care, expand patient access and participation in clinical trials. 2) Explore translational research and newborn screening approaches with the goal of developing earlier and more effective treatment, including neuroprotection 3) Provide a forum for to attract students, residents and postdoctoral fellows to the field by communication with senior investigators, the patient community and the science

  • The Urea Cycle Disorders Satellite Symposium to the 11th International Congress on Inborn Errors of Metabolism (ICIEM) – Overcoming Barriers – New Developments and Future Directions for Urea Cycle Disorders, Thursday, August 27, 2009 - Saturday, August 29, 2009
    Location: Estancia La Jolla Hotel Conference Center, La Jolla, CA
    Description: The specific aims of this meeting were to (1) focus attention on advances that may provide a basis for new interventions to treat UCDs and address the long-term effects of the disorders; (2) review progress and discuss new findings in the role of urea cycle defects, precursors, and intermediaries and their impact on non-urea cycle reactions, e.g., blood pressure and liver disease; and (3) share preliminary data from the investigations of the Urea Cycle Disorders Consortium and encourage collaborations that expand patient access and participation in clinical trials.

Other Names for this Disease
  • NICCD
  • Neonatal-onset citrullinemia type II
  • Citrin deficiency
  • Neonatal-onset citrullinemia type 2
  • Neonatal intrahepatic cholestasis due to citrin deficiency
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.