Deficiency of thiosulphate sulphurtransferase (rhodanese) in Leber's hereditary optic neuropathy.
Br Med J (Clin Res Ed)
; 292(6530): 1229-30, 1986 May 10.
Article
en En
| MEDLINE
| ID: mdl-3085790
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.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Sulfurtransferasas
/
Tiosulfato Azufretransferasa
/
Enfermedades del Nervio Óptico
Límite:
Adult
/
Aged
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Female
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Humans
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Male
/
Middle aged
Idioma:
En
Revista:
Br Med J (Clin Res Ed)
Año:
1986
Tipo del documento:
Article
Pais de publicación:
Reino Unido