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)
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Genetic and Rare Diseases (GARD) Information Center
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NIH/National Institute of Diabetes, Digestive & Kidney Diseases
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National Kidney Foundation
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National Urea Cycle Disorders Foundation
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Organic Acidaemias UK
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Urea Cycle Disorders Consortium
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Last Updated: 5/18/2016
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