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.
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)
- Climb Building
- 176 Nantwich Road
- Crewe, CW2 6BG
- United Kingdom
- Tel: 4408452412173
- Fax: 4408452412174
- Email: firstname.lastname@example.org
- Website: http://www.CLIMB.org.uk
Childhood Liver Disease Research and Education Network
- c/o Joan M. Hines, Research Administrator
- Children's Hospital Colorado
- Aurora, CO 80045
- Tel: (720)777-2598
- Fax: (720)777-7351
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- Website: http://www.childrennetwork.org
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
- Website: http://rarediseases.info.nih.gov/GARD/
Lactic Acidosis Support Trust
- 1A Whitley Close
- Cheshire, CW10 0NQ
- United Kingdom
- Tel: 160683719
- Fax: 1606837198
- PO Box 51474
- Boston, MA 02205
- Tel: (888)648-6228
- Fax: (888)648-6228
- Email: firstname.lastname@example.org
- Website: http://www.MitoAction.org
NIH/National Institute of Diabetes, Digestive & Kidney Diseases
- Office of Communications & Public Liaison
- Bldg 31, Rm 9A06
- Bethesda, MD 20892-2560
- Tel: (301)496-3583
- Email: NDDIC@info.niddk.nih.gov
- Website: http://www2.niddk.nih.gov/
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
- Website: http://www.ninds.nih.gov/
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
- Email: email@example.com
- Website: http://www.umdf.org
For a Complete Report
This is an abstract of a report from the National Organization for Rare Disorders (NORD). For a full-text version of this report, go to www.rarediseases.org 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.
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.
Last Updated: 8/7/2007
Copyright 2007 National Organization for Rare Disorders, Inc.
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