The ratio of α‐galactosidase to β‐glucuronidase activities in dried blood for the identification of female Fabry disease patients

• Published in: Journal of inherited metabolic disease Vol. 28; no. 5; pp. 803 - 805
• Main Authors: Lukacs, Z., Keil, A., Kohlschütter, A., Beck, M., Mengel, E.
• Format: Journal Article
• Language: English
• Published: Dordrecht Kluwer Academic Publishers 01.01.2005; Springer
• Subjects: alpha-Galactosidase - blood; Biological and medical sciences; Blood; Enzyme Therapy; Errors of metabolism; Fabry Disease - diagnosis; Female; Glucuronidase - blood; Heterozygote; Humans; Lipids (lysosomal enzyme disorders, storage diseases); Lysosomes - metabolism; Male; Medical genetics; Medical sciences; Metabolic diseases; Mutation; Reference Values; Specimen Handling; Fabry disease; Cardiovascular disease; Lipids; Identification; Enzymopathy; Blood; Vascular disease; Female; Genetics; Ratio; Lipoidosis; β-Galactosidase; Human; Nervous system diseases; β-Glucuronidase; Nutrition; Enzyme; Patient; Metabolic diseases; Biological activity; Genetic disease; α-Galactosidase; Glycosidases; Hydrolases; α-Glucosiduronase; O-Glycosidases
• ISSN: 0141-8955; 1573-2665
• DOI: 10.1007/s10545-005-0039-4

Summary Female heterozygous patients with Fabry disease are difficult to identify because of the relatively high residual activity of α‐galactosidase. We systematically evaluated the activities of various lysosomal enzymes in dried blood samples from Fabry patients and found that the β‐glucuronidase activity was frequently elevated. The ratio of α‐galactosidase to β‐glucuronidase proved to be a helpful tool for the diagnosis of female Fabry disease patients.