Ornithine Transcarbamylase Deficiency
National Organization for Rare Disorders, Inc.
It is possible that the main title of the report Ornithine Transcarbamylase Deficiency is not the name you expected.
Ornithine transcarbamylase (OTC) deficiency is a rare X-linked genetic disorder characterized by complete or partial lack of the enzyme ornithine transcarbamylase (OTC). OTC is one of six enzymes that play a role in the break down and removal of nitrogen the body, a process known as the urea cycle. The lack of the OTC enzyme results in excessive accumulation of nitrogen, in the form of ammonia (hyperammonemia), in the blood. Excess ammonia, which is a neurotoxin, travels to the central nervous system through the blood, resulting in the symptoms and physical findings associated with OTC deficiency. Symptoms include vomiting, refusal to eat, progressive lethargy, and coma.
CLIMB (Children Living with Inherited Metabolic Diseases)
- Climb Building
- 176 Nantwich Road
- Crewe, CW2 6BG
- United Kingdom
- Tel: 4408452412173
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- Website: http://www.CLIMB.org.uk
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/
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/
National Kidney Foundation
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- New York, NY 10016
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National Urea Cycle Disorders Foundation
- 75 South Grand Avenue
- Pasadena, CA 91105-1602
- Tel: (626)578-0833
- Fax: (626)578-0823
- Tel: (800)386-8233
- Email: firstname.lastname@example.org
- Website: http://www.nucdf.org
Organic Acidaemias UK
- 5, Saxon Road
- Middlesex, TW15 1QL
- United Kingdom
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- Website: http://myweb.tiscali.co.uk/priddy/
Urea Cycle Disorders Consortium
- Children's National Medical Center
- 111 Michigan Avenue, NW
- Washington, DC 20010
- Tel: (815)333-4014
- Email: firstname.lastname@example.org
- Website: http://rarediseasesnetwork.epi.usf.edu/ucdc/index.htm
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".
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Last Updated: 4/22/2014
Copyright 2014 National Organization for Rare Disorders, Inc.
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