男性迟发性鸟氨酸氨甲酰基转移酶缺乏症
Late onset ornithine carbamoyl transferase deficiency in males.
作者信息
Drogari E, Leonard J V
机构信息
Department of Child Health, Institute of Child Health, London.
出版信息
Arch Dis Child. 1988 Nov;63(11):1363-7. doi: 10.1136/adc.63.11.1363.
Abstract
Six boys with ornithine carbamoyl transferase deficiency presenting in infancy or later childhood are described. There was wide variation in both the time of presentation and the symptoms, which may initially suggest a neurological, behavioural, or gastroenterological problem. Two patients died, as did two male siblings who were probably affected, but with early recognition of the hyperammonaemia the outlook is good.
摘要
本文描述了6例在婴儿期或儿童期后期出现鸟氨酸氨甲酰基转移酶缺乏症的男孩。发病时间和症状差异很大，最初可能提示存在神经、行为或胃肠问题。两名患者死亡，两名可能患病的男性同胞也死亡，但如果能早期识别高氨血症，预后良好。
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