鸟氨酸氨甲酰转移酶缺乏症的NO合成——低NO合成可能参与了尿素循环代谢异常的临床表现

Nitric oxide synthesis in ornithine transcar- bamylase deficiency: Possible involvement of low no synthesis in clinical manifestations of urea cycle defect

对5例迟发型鸟氨酸氨甲酰转移酶缺乏症(OTCD) 女童的血浆和尿中的NO水平进行了测定,她们经常出现偏头痛或呕吐。发现患者有低NO合成,提示低NO合成参与了尿素循环代谢异常的临床表现。

Nitric oxide (NO) levels in plasma and urine were determined in 5 girls with ornithine transcarbamylase deficiency (OTCD) of late-onset type, who often developedmi-graine-like headache or vomiting. The patients were found to have low NO synthesis, suggesting that the low NO synthesis contributes to the clinical manifestations of urea cycle defect.