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Diseases

Genetic and Rare Diseases Information Center (GARD)

Carbamoyl phosphate synthetase 1 deficiency


Other Names for this Disease
  • Hyperammonemia due to carbamoyl phosphate synthetase 1 deficiency
  • CPS 1 deficiency
  • Carbamyl phosphate synthetase (CPS) deficiency
  • Carbamoyl-phosphate synthase 1 deficiency
  • Carbamoyl-phosphate synthase deficiency
Related Diseases
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

  • Challenges and Opportunities in Primary Mitochondrial Diseases, Thursday, March 08, 2012 - Friday, March 09, 2012
    Location: Rockville, MD
    Description: The National Institutes of Health, Office of Rare Diseases Research and The United Mitochondrial Disease Foundation offer a 2-day meeting in March 2012 in Rockville, Maryland. The purpose of the meeting is to survey obstacles and needs of the Primary Mitochondrial Diseases Research and Development Community that could enhance translation of basic science discoveries to the development of diagnostics and therapeutics.An executive summary and white paper from the meeting can be accessed from the conference website below.

  • 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.

Other Conferences

  • 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.
Other Names for this Disease
  • Hyperammonemia due to carbamoyl phosphate synthetase 1 deficiency
  • CPS 1 deficiency
  • Carbamyl phosphate synthetase (CPS) deficiency
  • Carbamoyl-phosphate synthase 1 deficiency
  • Carbamoyl-phosphate synthase deficiency
Related Diseases
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.