Last update 01 Nov 2024

Ornithine Carbamoyltransferase Deficiency Disease

Basic Info

Synonyms
Deficiencies, OTC, Deficiencies, Ornithine Transcarbamylase, Deficiency Disease, Ornithine Carbamoyltransferase
+ [47]
Introduction
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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