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What is ornithine transcarbamylase (OTC) deficiency?

OTC deficiency is caused by mutations in the gene encoding the ornithine transcarbamylase (OTC) enzyme. This enzyme is responsible for detoxification of the ammonia that forms when proteins are broken down in the body. When there is not enough OT, ammonia builds up in the bloodstream. This can become toxic at high levels, potentially causing neurological impairments and eventual liver damage.

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

Ornithine Transcarbamylase Deficiency | Diagnosis & Treatments

Ornithine Transcarbamylase Deficiency | Programs & Services