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À propos de : Deficiency of thiosulphate sulphurtransferase (rhodanese) in Leber's hereditary optic neuropathy.        

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  • Deficiency of thiosulphate sulphurtransferase (rhodanese) in Leber's hereditary optic neuropathy.
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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.
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PubMed ID
  • 3085790



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