Our liver transplant program is one of the world's oldest

Liver Disorders

Transplant Services Website

Ornithine Transcarbamylase (OTC) Deficiency

An X-linked genetic disorder, OTC is caused by a deficiency in the blood enzyme, ornithine carbamyl transferase. Ornithine is an amino acid important to the urea cycle, a complex process by which ammonia is detoxified in the liver and excreted. A disruption in the process results in hyperammonemia (abnormally high levels of ammonia in blood). OTC is the most common of urea cycle disorders and can manifest as severe or episodic. Generally occurring in newborns or in early childhood, male neonates are more likely to experience severe hyperammonemia; females tend to experience milder, episodic forms, or exhibit no clinical symptoms. Liver transplant is a successful option for some patients. Perinatal diagnosis is possible by analyzing DNA in chorionic villus samples or by fetal liver biopsy.