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中英关联术语

鸟氨酸氨甲酰基转移酶缺乏症

Ornithine Carbamoyltransferase Deficiency Disease

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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)

中文名称索引;定义为 MeSH 英文原文,尚未逐条译审。MESH:D020163 · MeSH 2026。

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