title: The ratio of alpha-galactosidase to beta-glucuronidase activities in dried blood for the identification of female Fabry disease patients.
abstract: Female heterozygous patients with Fabry disease are difficult to identify because of the relatively high residual activity of alpha-galactosidase. We systematically evaluated the activities of various lysosomal enzymes in dried blood samples from Fabry patients and found that the beta-glucuronidase activity was frequently elevated. The ratio of alpha-galactosidase to beta-glucuronidase proved to be a helpful tool for the diagnosis of female Fabry disease patients.
authors.affiliation: Department of Paediatrics, Metabolic Laboratory, University Hospital Hamburg-Eppendorf, Hamburg, Germany. lukacs@uke.uni-hamburg.de
authors.forename: Z
authors.initials: Z
authors.lastname: Lukacs
authors.forename: A
authors.initials: A
authors.lastname: Keil
authors.forename: A
authors.initials: A
authors.lastname: Kohlschütter
authors.forename: M
authors.initials: M
authors.lastname: Beck
authors.forename: E
authors.initials: E
authors.lastname: Mengel
mesh_terms: D001769:Blood; D057487:Enzyme Therapy; D000795:Fabry Disease / Q000175:diagnosis*; D005260:Female; D005966:Glucuronidase / Q000097:blood*; D006579:Heterozygote; D006801:Humans; D008247:Lysosomes / Q000378:metabolism; D008297:Male; D009154:Mutation; D012016:Reference Values; D013048:Specimen Handling; D000519:alpha-Galactosidase / Q000097:blood*
chemical_list: D000519:alpha-Galactosidase; D005966:Glucuronidase