Pyruvate Dehydrogenase Complex Deficiency

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It is possible that the main title of the report Pyruvate Dehydrogenase Complex 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.


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

Disorder Subdivisions

  • None

General Discussion

Pyruvate dehydrogenase complex deficiency (PDCD) is a rare disorder of carbohydrate metabolism caused by a deficiency of one of the three enzymes in the pyruvate dehydrogenase complex (PDC). 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. Most individuals with PDCD have an abnormality in the PDHA1 gene located on the X chromosome. Some affected individuals have rarer forms of the disorder that follow autosomal recessive inheritance.Some individuals have a thiamine responsive form of this disorder.


CLIMB (Children Living with Inherited Metabolic Diseases)
Climb Building
176 Nantwich Road
Crewe, CW2 6BG
United Kingdom
Tel: 4408452412173
Fax: 4408452412174

The Arc
1825 K Street NW, Suite 1200
Washington, DC 20006
Tel: (202)534-3700
Fax: (202)534-3731
Tel: (800)433-5255
TDD: (817)277-0553

United Mitochondrial Disease Foundation
8085 Saltsburg Road Suite 201
Pittsburgh, PA 15239
United States
Tel: (412)793-8077
Fax: (412)793-6477
Tel: (888)317-8633

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

Organic Acidaemias UK
5, Saxon Road
Middlesex, TW15 1QL
United Kingdom
Tel: 4401784245989

NIH/National Institute of Neurological Disorders and Stroke
P.O. Box 5801
Bethesda, MD 20824
Tel: (301)496-5751
Fax: (301)402-2186
Tel: (800)352-9424
TDD: (301)468-5981

Canadian Association for Familial Ataxias - Claude St-Jean Foundation
3800 Radisson Street Office 110
Quebec, H1M 1X6
Tel: 5143218684
Tel: 8553218684

Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
Tel: (301)251-4925
Fax: (301)251-4911
Tel: (888)205-2311
TDD: (888)205-3223

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders (NORD). A copy of the complete report can be downloaded free from the NORD website for registered users. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational therapies (if available), and references from medical literature. For a full-text version of this topic, go to and click on Rare Disease Database under "Rare Disease Information".

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.

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Last Updated:  2/19/2010
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