Diseases & Conditions


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Pyruvate Dehydrogenase Deficiency


Synonyms of Pyruvate Dehydrogenase Deficiency
  • itermittent ataxia with pyruvate dehydrogenase deficiency
  • lactic and pyruvate acidemia with carbohydrate sensitivity
  • lactic and pyruvate acidemia with episodic ataxia and weakness
  • PDCD
  • PDH deficiency

Disorder Subdivisions



    General Discussion
    Pyruvate dehydrogenase complex deficiency (PDCD) is a rare disorder of carbohydrate metabolism caused by a deficiency of one or more enzymes in the pyruvate dehydrogenase complex. The age of onset and severity of disease depends on the activity level of the PDC enzymes. Individuals with PDCD beginning prenatally or in infancy usually die in early childhood. Those who develop PDCD later in childhood may have mental retardation and other neurological symptoms and usually survive into adulthood. Approximately 25% of individuals with PDCD have an abnormality in the PHE1A gene located on the X chromosome. Approximately 75% of affected individuals have a form of the disorder that follows autosomal recessive inheritance.
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    Organizations related to Pyruvate Dehydrogenase Deficiency
    • 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/
    • 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/
    • Organic Acidaemias UK
      5 Saxon Road
      Middlesex Intl TW15 1QL
      Phone #: 44--178-4-245989
      800 #: --
      e-mail: davidpriddy@bigfoot.com
      Home page: N/A
    • The Arc (a national organization on mental retardation)
      1010 Wayne Ave
      Silver Spring MD 20910
      Phone #: 301-565-3842
      800 #: 800-433-5255
      e-mail: info@thearc.org
      Home page: http://www.thearc.org/
    • 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