单词 | Deficiency Disease,Ornithine Carbamoyltransferase |
释义 | Deficiency Disease,Ornithine Carbamoyltransferase《英文msh词典》Deficiency Disease,Ornithine Carbamoyltransferase [入口词] Deficiency Disease,Ornithine Carbamoyltransferase [主题词] Ornithine Carbamoyltransferase Deficiency Disease [英文释义] An inherited urea cycle disorder associated with deficiency of the enzyme ORNITHINE CARBAMOYLTRANSFERASE,transmitted as a sex-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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