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.
- hyperammonemia due to ornithine transcarbamylase deficiency
- ornithine carbamyltransferase deficiency
- OTC 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.
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Urea Cycle Disorders Consortium
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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: 12/13/1969
Copyright 2014 National Organization for Rare Disorders, Inc.
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