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The ratio of α‐galactosidase to β‐glucuronidase activities in dried blood for the identification of female Fabry disease patients
Author(s) -
Lukacs Z.,
Keil A.,
Kohlschütter A.,
Beck M.,
Mengel E.
Publication year - 2005
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/s10545-005-0039-4
Subject(s) - fabry disease , enzyme replacement therapy , human genetics , alpha galactosidase , medicine , identification (biology) , disease , glucuronidase , enzyme , biology , genetics , biochemistry , gene , botany
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.