Research Article

Deficiency of thiosulphate sulphurtransferase (rhodanese) in Leber's hereditary optic neuropathy.

Br Med J (Clin Res Ed) 1986; 292 doi: https://doi.org/10.1136/bmj.292.6530.1229 (Published 10 May 1986) Cite this as: Br Med J (Clin Res Ed) 1986;292:1229
  1. C J Poole,
  2. P R Kind

    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.