Pyruvate Dehydrogenase Deficiency / Disease

Diseases & Conditions

A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

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.
.

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: [email protected]
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: [email protected]
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: [email protected]
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: [email protected]
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: [email protected]
Home page: http://www.thearc.org/
United Mitochondrial Disease Foundation
8085 Saltsburg Road
Pittsburgh PA 15239
Phone #: 412-793-8077
800 #: --
e-mail: [email protected]
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