| 单词 | Ornithine Carbamoyltransferase Deficiency Disease |
| 释义 | Ornithine Carbamoyltransferase Deficiency Disease《英文msh词典》Ornithine Carbamoyltransferase Deficiency Disease [主题词] Ornithine Carbamoyltransferase Deficiency Disease [同义词] Ornithine Transcarbamylase Deficiency Disease [入口词] Deficiency Disease,Ornithine Carbamoyltransferase [入口词] Deficiency Disease,Ornithine Transcarbamylase [中文释义] 鸟氨酸氨甲酰转移酶缺乏症 [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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