Pyruvate Carboxylase Deficiency
National Organization for Rare Disorders, Inc.
It is possible that the main title of the report Pyruvate Carboxylase 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.
- pyruvate carboxylase deficiency type A
- pyruvate carboxylase deficiency type B
- pyruvate carboxylase deficiency type C
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.
CLIMB (Children Living with Inherited Metabolic Diseases)
176 Nantwich Road
Crewe, CW2 6BG
United Mitochondrial Disease Foundation
8085 Saltsburg Road Suite 201
Pittsburgh, PA 15239
Lactic Acidosis Support Trust
1A Whitley Close
Cheshire, CW10 0NQ
NIH/National Institute of Diabetes, Digestive & Kidney Diseases
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NIH/National Institute of Neurological Disorders and Stroke
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Genetic and Rare Diseases (GARD) Information Center
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PO Box 241956
Los Angeles, CA 90024
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Medford, MA 02155
Childhood Liver Disease Research and Education Network
c/o Joan M. Hines, Research Administrator
Children's Hospital Colorado
13123 E 16th Ave. B290
Aurora, CO 80045
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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: 8/7/2007
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