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. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.
- OTC deficiency
- ornithine carbamyltransferase deficiency
- hyperammonemia due to ornithine transcarbamylase deficiency
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)
176 Nantwich Road
Crewe, CW2 6BG
National Urea Cycle Disorders Foundation
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Pasadena, CA 91105-1602
National Kidney Foundation
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New York, NY 10016
Organic Acidaemias UK
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Middlesex, TW15 1QL
NIH/National Institute of Diabetes, Digestive & Kidney Diseases
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Genetic and Rare Diseases (GARD) Information Center
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Los Angeles, CA 90024
Urea Cycle Disorders Consortium
Children's National Medical Center
111 Michigan Avenue, NW
Washington, DC 20010
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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
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Last Updated: 4/22/2014
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