title: [Fabry disease: diagnostic due of substitutive enzyme-therapy].
abstract: Fabry disease is a X-linked sphingolipid storage disorder resulting from the defective activity of the lysosomal enzyme, alpha-galactosidase A. Hemizygotes develop severe multisystemic disease, dominated by renal failure and progressive neurological and cardiac involvement, causing premature death. Thirty percent of heterozygotes have severe involvement of one or several organs. With developments in molecular biology, it is now possible to produce the human recombinant enzyme alpha-galactosidase A. More than 20 patients are now treated in Switzerland.
authors.affiliation: Division de Néphrologie CHUV, Av du Bugnon 17, 1011 Lausanne. Frederic.Barbey@chuv.hospvd.ch
authors.forename: Frédéric
authors.initials: F
authors.lastname: Barbey
authors.forename: Urs
authors.initials: U
authors.lastname: Widmer
authors.forename: Michel
authors.initials: M
authors.lastname: Burnier
authors.forename: Olivier
authors.initials: O
authors.lastname: Lidove
mesh_terms: D001706:Biopsy; D041321:Chromosomes, Human, X / Q000235:genetics; D000795:Fabry Disease / Q000175:diagnosis* / Q000188:drug therapy / Q000235:genetics; D005696:Galactosidases / Q000097:blood / Q000627:therapeutic use; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D000519:alpha-Galactosidase / Q000097:blood / Q000627:therapeutic use
chemical_list: D005696:Galactosidases; D000519:alpha-Galactosidase