title: [Fabry disease].
abstract: Fabry disease is an X-linked inherited condition with the absence or reduction of alpha-galactosidase A- activity in lysosomes leading to accumulation of globotriaosylceramide and related neutral glycosphingolipids. Manifestations of Fabry disease include progressive renal and cardiac insufficiency, neuropathic pain, gastrointestinal symptoms, cerebral infarction and skin and pulmonary symptoms. First symptoms of Fabry disease usually appear in childhood. The symptoms in females may be as severe as in males. Early diagnosis of Fabry disease is important because enzyme replacement therapy can stabilize the condition and prevent progression of the disease.
authors.affiliation: TYKS, sisätautien klinikka.
authors.forename: Ilkka
authors.initials: I
authors.lastname: Kantola
authors.forename: Maila
authors.initials: M
authors.lastname: Penttinen
authors.forename: Pirjo
authors.initials: P
authors.lastname: Nuutila
authors.forename: Jorma
authors.initials: J
authors.lastname: Viikari
mesh_terms: D018450:Disease Progression; D042241:Early Diagnosis; D056947:Enzyme Replacement Therapy; D000795:Fabry Disease / Q000175:diagnosis* / Q000628:therapy; D005260:Female; D006801:Humans; D008297:Male