title: Fabry disease in a female patient due to a de novo point mutation at position 691 of exon 5.
abstract: Fabry disease is an X-linked lysosomal disorder caused by deficiency of the lysosomal enzyme alpha-galactosidase A. We report on a 32-year-old female patient with an 8-year history of vascular lesions on the hips and periumbilical region and a presumed Fabry disease without positive family history. Ophthalmologic evaluation revealed whorl-like corneal opacities. Echocardiography revealed myxomatous degeneration and prolapse of the mitral valve. DNA analysis of the alpha-galactosidase A gene confirmed the diagnosis of Fabry disease, showing a de novo point mutation at position 691 of exon 5. The patient is now obtaining intravenous enzyme replacement therapy with agalsidase alfa and remains without drug-related reactions.
authors.affiliation: Department of Dermatology, Venereology and Allergology, University Hospital Essen, Hufelandstrasse 55, D-45122 Essen, Germany.
authors.forename: E I
authors.initials: EI
authors.lastname: Brokalaki
authors.forename: M
authors.initials: M
authors.lastname: Hentschke
authors.forename: S
authors.initials: S
authors.lastname: Grabbe
authors.forename: T
authors.initials: T
authors.lastname: Jansen
mesh_terms: D000328:Adult; D004247:DNA / Q000235:genetics*; D004252:DNA Mutational Analysis; D005091:Exons; D000795:Fabry Disease / Q000201:enzymology / Q000235:genetics*; D005260:Female; D006801:Humans; D017354:Point Mutation; D000519:alpha-Galactosidase / Q000235:genetics*
chemical_list: D004247:DNA; D000519:alpha-Galactosidase