Ornithine Transcarbamylase Deficiency

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Ornithine transcarbamylase (OTC) deficiency is the most common of the urea cycle disorders. An impairment of the reaction that leads to condensation of carbamyl phosphate and ornithine to form citrulline occurs. This impairment leads to reduced ammonia incorporation, which, in turn, causes symptomatic Hyperammonemia. The gene for this enzyme is normally expressed in the liver and is intramitochondrial.