HETEROZYGOTE ORNITHINE TRANSCARBAMYLASE DEFICIENCY PRESENTING AS SYMPTOMATIC HYPERAMMONEMIA DURING INITIATION OF VALPROATE THERAPY
HETEROZYGOTE ORNITHINE TRANSCARBAMYLASE DEFICIENCY PRESENTING AS SYMPTOMATIC HYPERAMMONEMIA DURING INITIATION OF VALPROATE THERAPY
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DOI：
10.1212/wnl.42.3.666
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发表时间：
1992-03-01
期刊：
影响因子：
9.9
通讯作者：
EVANS, B
中科院分区：
文献类型：
--
作者：
HONEYCUTT, D;CALLAHAN, K;EVANS, B
鸟氨酸转氨甲酰酶是一种线粒体尿素循环酶。 患有杂合子型鸟氨酸转氨甲酰酶缺乏症的妇女可能没有症状或有发作性的症状性高氨血症，这可能是致命的。 我们报告了1例既往未确诊的杂合子鸟氨酸转氨甲酰酶缺陷患者，在开始丙戊酸盐治疗期间出现症状性高氨血症。 这是第二个这样的病人报告。 丙戊酸盐治疗期间的症状性高氨血症可能提示鸟氨酸转氨甲酰酶缺乏。 由于丙戊酸盐可抑制尿素生成，并可能对线粒体有毒，因此在鸟氨酸转氨甲酰酶缺乏患者中应极其谨慎使用或根本不使用。
Ornithine transcarbamylase is a mitochondrial urea cycle enzyme. Women with heterozygous ornithine transcarbamylase deficiency may have no symptoms or have episodic, symptomatic hyperammonemia, which can be fatal. We report a previously undiagnosed heterozygote ornithine transcarbamylase-deficient patient who had symptomatic hyperammonemia during initiation of valproate therapy. This is the second such patient reported. Symptomatic hyperammonemia during valproate therapy may indicate ornithine transcarbamylase deficiency. Since valproate inhibits ureagenesis and can be toxic to mitochondria, it should be used extremely cautiously, or not at all, in ornithine transcarbamylase-deficient patients.