Also known as
OCTD, OTC1, OTCD, OTCase
OTC is a gene that codes for a protein called ornithine transcarbamylase. This protein is involved in the metabolism of ammonia, a byproduct of protein breakdown in the body. Mutations in the OTC gene can cause a genetic disorder called ornithine transcarbamylase deficiency (OTCD). OTCD is a rare disorder that affects the way the body processes protein. It can cause high levels of ammonia to build up in the blood, leading to serious health problems such as vomiting, coma, and even death. OTCD is usually diagnosed in newborns and is treated with a low-protein diet and medications to help remove excess ammonia from the body. In severe cases, a liver transplant may be necessary.
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