Definitions for ornithine carbamoyltransferase deficiency disease

This page provides all possible meanings and translations of the word ornithine carbamoyltransferase deficiency disease

U.S. National Library of Medicine

  1. Ornithine Carbamoyltransferase Deficiency Disease

    An inherited urea cycle disorder associated with deficiency of the enzyme ORNITHINE CARBAMOYLTRANSFERASE, transmitted as an X-linked trait and featuring elevations of amino acids and ammonia in the serum. Clinical features, which are more prominent in males, include seizures, behavioral alterations, episodic vomiting, lethargy, and coma. (Menkes, Textbook of Child Neurology, 5th ed, pp49-50)


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