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Diseases

Genetic and Rare Diseases Information Center (GARD)

Pyruvate decarboxylase deficiency


Other Names for this Disease
  • Ataxia, intermittent, with pyruvate dehydrogenase, or decarboxylase, deficiency
  • Ataxia with lactic acidosis 1
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.

  • Nutritional Interventions in Primary Mitochondrial Disorders: Developing an Evidence Base, Tuesday, December 02, 2014 - Wednesday, December 03, 2014
    Location: NIH Campus, Bethesda, MD
    Description: The goal of this meeting is to explore the use of nutritional interventions, including dietary supplements, in primary mitochondrial disorders (PMD); identify gaps in knowledge; develop a research agenda; and identify research opportunities to promote an evidence base for the use of nutritional interventions in primary mitochondrial disorders.

  • 2013 Neurobiology of Disease in Children Symposium: Mitochondrial Disease, Wednesday, October 30, 2013 - Wednesday, October 30, 2013
    Location: Austin, TX
    Description: The topic for the 2013 NDC Symposium is Mitochondrial Disease. The NDC Symposium is a forum for preeminent investigators assembled to discuss recent accomplishments and future directions with a large group of child neurologists, program officers from the National Institutes of Health, and members of dedicated foundations and associations.

  • Research Challenges in CNS Manifestations of Inborn Errors of Metabolism Workshop, Monday, December 07, 2009 - Wednesday, December 09, 2009
    Location: Bethesda North Marriott, Bethesda, Maryland
    Description: Jointly sponsored by the National Institute of Health's Office Rare Diseases Research, the National Institute of Neurological Disorders and Stroke, and the Food and Drug Administration's Center for Drug Evaluation and Research, Division of Gastroenterology Products, the goal of this workshop is to bring together those involved in research and investigational treatments for central nervous system aspects of inborn errors of metabolism, and to discuss ways to translate these therapies to clinical trials and beyond.

Other Names for this Disease
  • Ataxia, intermittent, with pyruvate dehydrogenase, or decarboxylase, deficiency
  • Ataxia with lactic acidosis 1
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.