title: Fabry's disease: a multidisciplinary disorder.
abstract: Fabry's disease is an X-linked hereditary disorder resulting in accumulation of a glycolipid (galactosylgalactosyl glucosylceramide) due to deficiency of alpha-galactosidase A. The diagnosis can be made by histopathologic examination of skin biopsy, low activity of alpha-galactosidase in leucocytes and genetic examination. Treatment is symptomatic. We want to stress the multidisciplinary collaboration necessary to deal with this condition, in order to prevent acceleration of symptoms.
authors.affiliation: Department of Internal Medicine, University Hospital Maastricht, The Netherlands.
authors.forename: F P
authors.initials: FP
authors.lastname: Peters
authors.forename: A
authors.initials: A
authors.lastname: Sommer
authors.forename: A
authors.initials: A
authors.lastname: Vermeulen
authors.forename: E C
authors.initials: EC
authors.lastname: Cheriex
authors.forename: T L
authors.initials: TL
authors.lastname: Kho
mesh_terms: D000328:Adult; D000795:Fabry Disease / Q000175:diagnosis / Q000209:etiology / Q000503:physiopathology / Q000628:therapy; D005260:Female; D006801:Humans; D008297:Male