- Arginino succinase deficiency
- Inborn error of urea synthesis, arginino succinic type
- Urea cycle disorder, arginino succinase type
- Argininosuccinate lyase deficiency
- ASL deficiency
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
Newborn Screening in the Genomic Era: Setting a Research Agenda, Monday, December 13, 2010 - Tuesday, December 14, 2010
Location: Rockville, MD
Description: This meeting allowed leaders in the fields of genomics and newborn screening to learn from each other and together explore new ways to advance research on new genomic technologies, potential health applications for newborn screening and beyond, and related ELSI issues.
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.
- Reaching for a Cure: 2011 NUCDF Annual Conference, July 8 2011 - July 10, 2011
Location: Sheraton Denver Downtown, Denver, Colorado
Description: This conference offers the unique opportunity to meet other UCD families, stay informed, and learn about new advances in research, treatment and management to improve the lives of children and adults with UCD. Working together, our NUCDF families and community of committed researchers and medical professionals are making a major impact with advances in the understanding of UCDs, accelerating research, and improved outcomes in children and adults with UCD. In the past four years, research for UCDs has increased by 400%! Let's continue the momentum and end the devastating effects of UCD.