ornithine transcarbamylase

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A nuclear-encoded mitochondrial matrix enzyme (OTC, EC, 354 aa) that catalyses the second step of the urea cycle in mammals. OTC deficiency (an X-linked metabolic defect) leads to hyperammonaemia. Other urea cycle disorders have been described in which the deficient enzymes are variously: carbamyl phosphate synthetase, argininosuccinate synthetase (causing citrullinaemia), argininosuccinate lyase and arginase.

Subjects: Medicine and Health.

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