Ornithine Transcarbamylase Deficiency
NORD gratefully acknowledges Nicholas Ah Mew, MD, Assistant Professor of Pediatrics, Children's National Medical Center, for assistance in the preparation of this report.
Synonyms of Ornithine Transcarbamylase Deficiency
- 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.
NORD Member Organizations
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