莱伯遗传性视神经病变中硫代硫酸盐硫转移酶（硫氰酸酶）缺乏症
Deficiency of thiosulphate sulphurtransferase (rhodanese) in Leber's hereditary optic neuropathy.
作者信息
Poole C J, Kind P R
出版信息
Br Med J (Clin Res Ed). 1986 May 10;292(6530):1229-30. doi: 10.1136/bmj.292.6530.1229.
Abstract
Leber's hereditary optic neuropathy is a rare cause of progressive visual failure. Its cause is unknown, but one hypothesis is that patients have a defect in the detoxication of cyanide. One of the enzymes used in this detoxication is thiosulphate sulphurtransferase (rhodanese). The activity of this enzyme was measured in the rectal mucosa of a group of subjects with Leber's hereditary optic neuropathy, and it was found to be considerably reduced compared with that in a group of controls (p less than 0.001). This finding supports the hypothesis of an inborn error of cyanide detoxication in this condition.
摘要
莱伯遗传性视神经病变是导致进行性视力减退的罕见病因。其病因不明，但有一种假说认为患者存在氰化物解毒缺陷。这种解毒过程中使用的一种酶是硫代硫酸盐硫转移酶（硫氰酸酶）。在一组莱伯遗传性视神经病变患者的直肠黏膜中测量了这种酶的活性，发现与一组对照组相比活性显著降低（p小于0.001）。这一发现支持了在这种情况下存在先天性氰化物解毒错误的假说。
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本文引用的文献
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