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Ornithine Carbamoyltransferase Deficiency DiseaseLegal notice  


Other terms
Ornithine Transcarbamylase Deficiency Disease,Deficiency Disease, Ornithine Transcarbamylase,Ornithine Transcarbamylase Deficiency,Deficiencies, Ornithine Transcarbamylase,Deficiency, Ornithine Transcarbamylase,Ornithine Transcarbamylase Deficiencies,OTC Deficiency,Deficiencies, OTC,Deficiency, OTC,OTC Deficiencies,Deficiency Disease, Ornithine Carbamoyltransferase

Description
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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Legal notice
The U.S. National Library of Medicine is the creator, maintainer, and provider of the data above.
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