The ratio of alpha-galactosidase to beta-glucuronidase activities in dried blood for the identification of female Fabry disease patients.
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.
Lukacs
Z
Z
Department of Paediatrics, Metabolic Laboratory, University Hospital Hamburg-Eppendorf, Hamburg, Germany. lukacs@uke.uni-hamburg.de
Keil
A
A
Kohlschütter
A
A
Beck
M
M
Mengel
E
E
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*
D000519:alpha-Galactosidase; D005966:Glucuronidase