Hirota K, Shiga T, Kimura K, Matsuki A, Oyama T
Masui. 1989 Jan;38(1):98-101.
We report an anesthetic experience with ornithine transcarbamylase deficiency. The patient was 26 years of age who underwent open biopsy of the liver for a definitive diagnosis. OTC deficiency is an X-linked disorder of urea cycle. One of the anesthetic problems is how to control the blood ammonia level resulting in neurological damage which occurs following anesthesia and surgery. Recently it has been advocated that benzoate is effective to prevent hyperammonemia in patients with OTC deficiency. As patients with this disease are frequently complicated with hepatic dysfunction, anesthetics which may cause hepatic damage such as halothane should be avoided.
我们报告了一例鸟氨酸转氨甲酰酶缺乏症患者的麻醉经历。该患者26岁，因明确诊断而接受了肝脏开放活检。鸟氨酸转氨甲酰酶缺乏症是一种X连锁尿素循环障碍疾病。麻醉过程中的一个问题是如何控制血氨水平，以避免麻醉和手术后发生导致神经损伤的情况。最近有人主张，苯甲酸盐对预防鸟氨酸转氨甲酰酶缺乏症患者的高氨血症有效。由于该疾病患者常伴有肝功能不全，应避免使用可能导致肝损伤的麻醉剂，如氟烷。
