《英文msh词典》Ornithine Transcarbamylase Deficiency Disease
[同义词] Ornithine Transcarbamylase Deficiency Disease
[主题词] Ornithine Carbamoyltransferase Deficiency Disease
[中文释义] 鸟氨酸转氨甲酰酶缺乏症
[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)