What is (are) Ornithine transcarbamylase deficiency ?
Ornithine transcarbamylase (OTC) deficiency is an inherited disorder that causes ammonia to accumulate in the blood. Ammonia, which is formed when proteins are broken down in the body, is toxic if the levels become too high. The nervous system is especially sensitive to the effects of excess ammonia. The signs and symptoms of OTC deficiency may include development delay, intellectual disability and liver problems. It is caused by changes (mutations) in the OTC gene. OTC deficiency is inherited as an X-linked condition. Treatment consists of not eating protein, taking certain medications and having hemodialysis, if needed.