Deficiency of thiosulphate sulphurtransferase (rhodanese) in Leber's hereditary optic neuropathy.
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.
D000328:Adult; D000368:Aged; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009092:Mucous Membrane / Q000201:enzymology; D009901:Optic Nerve Diseases / Q000201:enzymology / Q000235:genetics*; D012007:Rectum / Q000201:enzymology; D013466:Sulfurtransferases / Q000172:deficiency*; D013884:Thiosulfate Sulfurtransferase / Q000172:deficiency*
D013466:Sulfurtransferases; D013884:Thiosulfate Sulfurtransferase