Diseases & Conditions


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Pyruvate Carboxylase Deficiency


Synonyms of Pyruvate Carboxylase Deficiency
  • Ataxia with Lactic Acidosis, Type II
  • PC Deficiency

Disorder Subdivisions

  • PC Deficiency, Group A
  • PC Deficiency, Group B
  • Pyruvate Carboxylase Deficiency, Group A
  • Pyruvate Carboxylase Deficiency, Group B


General Discussion
Pyruvate carboxylase deficiency is a rare genetic disorder characterized by a failure of the body to produce the necessary fuels for energy and neurotransmitters important for brain function. In its most severe form PCD leads to progressive damage to the tissue and organs, especially in the nervous system. Pyruvate carboxylase deficiency is inherited as an autosomal recessive genetic condition.

Organizations related to Pyruvate Carboxylase Deficiency
  • Brusilow, Saul, M.D.
    Children's Medical and Surgical Center
    Baltimore MD 21205
    Phone #: 410-955-0885
    800 #: --
    e-mail: N/A
    Home page: N/A
  • CLIMB (Children Living with Inherited Metabolic Diseases)
    Climb Building
    Crewe Intl CW2 6BG
    Phone #: +44- 87-0 7700 325
    800 #: --
    e-mail: info@climb.org.uk
    Home page: http://www.CLIMB.org.uk
  • Lactic Acidosis Support Trust
    1A Whitley Close
    Cheshire None CW10 0NQ
    Phone #: 016-068-3719
    800 #: --
    e-mail: N/A
    Home page: N/A
  • MUMS (Mothers United for Moral Support, Inc) National Parent-to-Parent Network
    150 Custer Court
    Green Bay WI 54301-1243
    Phone #: 920-336-5333
    800 #: 877-336-5333
    e-mail: mums@netnet.net
    Home page: http://www.netnet.net/mums/
  • Madisons Foundation
    PO Box 241956
    Los Angeles CA 90024
    Phone #: 310-264-0826
    800 #: N/A
    e-mail: getinfo@madisonsfoundation.org
    Home page: http://www.madisonsfoundation.org
  • NIH/National Institute of Diabetes, Digestive & Kidney Diseases
    Endocrine Diseases Metabolic Diseases Branch
    Bethesda MD 20892-3570
    Phone #: 301-654-3810
    800 #: --
    e-mail: NDDIC@info.niddk.nih.gov
    Home page: http://www.niddk.nih.gov
  • National Institute of Neurological Disorders and Stroke (NINDS)
    31 Center Drive
    Bethesda MD 20892-2540
    Phone #: 301-496-5751
    800 #: 800-352-9424
    e-mail: braininfo@ninds.nih.gov
    Home page: http://www.ninds.nih.gov/
  • United Mitochondrial Disease Foundation
    8085 Saltsburg Road
    Pittsburgh PA 15239
    Phone #: 412-793-8077
    800 #: --
    e-mail: info@umdf.org
    Home page: http://www.umdf.org



For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders, Inc. ? (NORD). A copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html