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

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Abstract
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.

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