Pyruvate Dehydrogenase Deficiency

Important
It is possible that the main title of the report Pyruvate Dehydrogenase Deficiency is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.

Synonyms

itermittent ataxia with pyruvate dehydrogenase deficiency
lactic and pyruvate acidemia with carbohydrate sensitivity
lactic and pyruvate acidemia with episodic ataxia and weakness
PDH deficiency
PDCD

Disorder Subdivisions

None

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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Resources

CLIMB (Children Living with Inherited Metabolic Diseases)
Climb Building
176 Nantwich Road
Crewe, Intl CW2 6BG
United Kingdom
Tel: +44 870 7700 325
Fax: +44 870 7700 327
Email: info@climb.org.uk
Internet: http://www.CLIMB.org.uk

The Arc (a national organization on mental retardation)
1010 Wayne Ave
Suite 650
Silver Spring, MD 20910
Tel: (301)565-3842
Fax: (301)565-3843
Tel: (800)433-5255
TDD: (817)277-0553
Email: info@thearc.org
Internet: http://www.thearc.org/

United Mitochondrial Disease Foundation
8085 Saltsburg Road
Suite 201
Pittsburgh, PA 15239
United States
Tel: 4127938077
Fax: 4127936477
Email: info@umdf.org
Internet: http://www.umdf.org

Lactic Acidosis Support Trust
1A Whitley Close
Middlewich
Cheshire, CW10 0NQ
United Kingdom
Tel: 0160683719
Fax: 01606837198

Organic Acidaemias UK
5 Saxon Road
Ashford
Middlesex, Intl TW15 1QL
United Kingdom
Tel: 44-1784-245989
Email: davidpriddy@bigfoot.com

National Institute of Neurological Disorders and Stroke (NINDS)
31 Center Drive
8A07
Bethesda, MD 20892-2540
Tel: (301)496-5751
Fax: (301)402-2186
Tel: (800)352-9424
Email: braininfo@ninds.nih.gov
Internet: http://www.ninds.nih.gov/

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

The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.
It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report.
This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.
For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site www.rarediseases.org or email orphan@rarediseases.org
Last Updated: 9/23/2007
Copyright 1987, 1988, 1990, 1992, 1994, 1998, 1999, 2004, 2007 National Organization for Rare Disorders, Inc.

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