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Genetic and Rare Diseases Information Center (GARD)

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Carbamoyl phosphate synthetase 1 deficiency

Other Names for this Disease

  • Carbamyl phosphate synthetase (CPS) deficiency
  • CPS 1 deficiency
  • Hyperammonemia due to carbamoyl phosphate synthetase 1 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

  • The Spectrum of Caregiving and Palliative Care in Rare Diseases, Tuesday, June 09, 2015 - Wednesday, June 10, 2015
    Location: NIH Natcher Conference Center, Bethesda, MD
    Description: The findings and recommendations resulting from the Workshop will provide guidance to the extramural community as well as to NINR and other Institutes, Offices (e.g., ORDR), and agencies in developing strategies for advancing the science of palliative care and caregiving in rare disease and research programs. It is anticipated that a funding opportunity announcement will result from the Workshop.

  • 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

  • RDCRN 3rd Conference on Clinical Research for Rare Diseases, Tuesday, October 02, 2012
    Location: Hilton Washington DC/Rockville Hotel & Executive Meeting Center, Rockville, MD
    Description: Clinical research in rare diseases presents a number of challenges and unique issues that are not usually considered in the training of clinical investigators through existing training programs. Goals of the conference include: direct instruction of trainees and new investigators in rare disease research methodology; development of a reusable curriculum/syllabus on rare disease research methodology; and stimulation of ideas regarding the unique issues facing investigators engaged in the study of rare diseases.

  • 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.

  • Mitochondrial Physiology and Medicine, Wednesday, September 07, 2011 - Sunday, September 11, 2011
    Location: Marine Biological Laboratory, Woods Hole, MA
    Description: An incredibly enriched and ambitious program has been developed including a speaker list that represents a veritable “Who’s Who” in mitochondrial research plus two internationally-acclaimed leaders in mitochondrial research and disease as keynote speakers: Drs. D. Clapham and D. Wallace, both members of National Academy of Sciences. The symposium will focus on 5 overarching themes: (1) mitochondrial morphology, movement, and dynamics, (2) mitochondrial systems biology, (3) mitochondrial ion channels and transporters, (4) mitochondrial communication and signaling, and (5) mitochondria in cell death and disease. These topics represent an integration of mitochondrial physiology and medicine from molecular to human levels with a special emphasis on the role of mitochondria as agents and therapeutic targets in combating disease. We expect that this conference will attract approximately 150-200 basic and clinical scientists across all career stages working at the cutting edge of mitochondrial research. The Society of General Physiologists and the members of organization committee are poised to ensure the success of this symposium. It is our aim that through open dialogue and communication, new and important ideas and novel therapies will emerge as a direct result of this timely meeting.

  • 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.

  • VI International Conference on Rare Diseases and Orphan Drugs (ICORD 2010): Global Approach to Accessibility in Rare Diseases, Orphan Drugs and Neglected Diseases , Thursday, March 18, 2010 - Saturday, March 20, 2010
    Location: Palais Rouge Convention Center, Palermo, Buenos Aires, Argentina
    Description: For the first time, the VI International Conference on Rare Diseases and Orphan Drugs (ICORD 2010) was convened in the southern hemisphere in agreement with its aim of globalization of rare diseases research and orphan products development activities.

  • 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
  • Carbamyl phosphate synthetase (CPS) deficiency
  • CPS 1 deficiency
  • Hyperammonemia due to carbamoyl phosphate synthetase 1 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.