title: Abnormalities of antioxidant metabolism in a case of Friedreich's disease.
abstract: We report a patient with Friedreich's disease (FD) who exhibited abnormalities of antioxidant metabolism, including decreased levels of glutathione peroxidase, glutathione reductase, and selenium, and an increased lipid peroxide index. These abnormalities became normal after treatment with N-acetylcysteine, selenium, and low-dose vitamin E therapy. Treatment was associated with a decreased rate of clinical decline. FD is a neurodegenerative disorder that may be related to disturbed antioxidant metabolism; the disorder may be treatable with antioxidant compounds.
authors.affiliation: Department of Neurology, University of Florida, Gainesville, USA.
authors.forename: W
authors.initials: W
authors.lastname: Helveston
authors.forename: J E
authors.initials: JE
authors.lastname: Cibula
authors.forename: R
authors.initials: R
authors.lastname: Hurd
authors.forename: B M
authors.initials: BM
authors.lastname: Uthman
authors.forename: B J
authors.initials: BJ
authors.lastname: Wilder
mesh_terms: D000111:Acetylcysteine / Q000627:therapeutic use*; D000328:Adult; D000975:Antioxidants / Q000378:metabolism / Q000627:therapeutic use*; D005260:Female; D005609:Free Radicals / Q000378:metabolism; D005979:Glutathione Peroxidase / Q000097:blood; D005980:Glutathione Reductase / Q000097:blood; D006801:Humans; D008054:Lipid Peroxides / Q000097:blood; D009207:Myoclonus / Q000097:blood* / Q000188:drug therapy*; D012643:Selenium / Q000627:therapeutic use; D014810:Vitamin E / Q000627:therapeutic use
chemical_list: D000975:Antioxidants; D005609:Free Radicals; D008054:Lipid Peroxides; D014810:Vitamin E; D005979:Glutathione Peroxidase; D005980:Glutathione Reductase; D012643:Selenium; D000111:Acetylcysteine