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OTC | Overview

Ornithine transcarbamylase (OTC) deficiency is genetic condition caused by a mutation in the OTC gene. Ordinarily, the OTC gene provides instructions to make the ornithine transcarbamylase enzyme, responsible for detoxification of ammonia, which forms when proteins are broken down in the body. With an OTC deficiency, ammonia builds up in the bloodstream and can become toxic at high levels, potentially resulting in neurological deficits and eventual liver damage.

The most common form of OTC deficiency, occurring in both males and females, is late-onset, which although considered milder than neonatel-onset OTC deficiency, is still considered a serious condition. Currently, the only curative treatment is liver transplantation.

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