Tags: Disease.
Ornithine transcarbamylase deficiency also known as OTC deficiency is the most common urea cycle disorder in humans. Ornithine transcarbamylase the defective enzyme in this disorder is the final enzyme in the proximal portion of the urea cycle responsible for converting carbamoyl phosphate and ornithine into citrulline. OTC deficiency is inherited in an X-linked recessive manner meaning males are more commonly affected than females.
