Ornithine transcarbamylase (OTC) deficiency is a rare metabolic condition and one of the disorders affecting the urea cycle. The urea cycle consists of five liver enzymes that assist in eliminating ammonia, a harmful byproduct of protein metabolism, from the body. When any of these enzymes are absent or insufficient, ammonia builds up in the bloodstream and reaches the brain, leading to coma, brain damage, and potentially death.OTC deficiency is the most prevalent disorder within the urea cycle group, affecting approximately one in every 40,000 births. The genetic mutation causing OTC resides on the X chromosome, meaning women are generally carriers, whereas their sons who inherit the gene manifest the illness.Severe OTC deficiency is a grave condition, often resulting in newborns falling into a coma within the first 72 hours of life. Many experience significant brain damage, with half of the affected infants dying within the first month, and half of those who survive not reaching the age of five.Treatment involves the use of a low-protein formula known as keto-acid, along with sodium benzoate, a preservative, and another sodium compound that binds with ammonia to aid in its removal from the body.
