title: Red cell glutathione in Leber's optic atrophy.
abstract: Red cell glutathione has been assayed in a family affected by Leber's optic atrophy. The results are in agreement with a defective cyanide metabolism. The transmission mechanism of the disease is discussed. Lastly, a preventive and therapeutic approach is proposed.
mesh_terms: D000328:Adult; D003486:Cyanides / Q000378:metabolism; D003545:Cysteine / Q000627:therapeutic use; D004032:Diet; D004912:Erythrocytes / Q000378:metabolism*; D005978:Glutathione / Q000097:blood*; D006801:Humans; D006879:Hydroxocobalamin / Q000627:therapeutic use; D008297:Male; D008661:Metabolism, Inborn Errors / Q000188:drug therapy; D008715:Methionine / Q000627:therapeutic use; D009896:Optic Atrophy / Q000097:blood* / Q000188:drug therapy / Q000235:genetics; D010375:Pedigree; D012907:Smoking
chemical_list: D003486:Cyanides; D008715:Methionine; D005978:Glutathione; D003545:Cysteine; D006879:Hydroxocobalamin