Monitoring enzyme replacement therapy in Fabry disease - Role of urine globotriaosylceramide

Abstract

Anderson-Fabry disease (referred to as Fabry disease) is an X-linked disorder characterized by a deficiency of the lysosomal enzyme α-galactosidase A and the subsequent accumulation in various tissues of globotriaosylceramide (Gb3), the main substrate of the defective enzyme. Enzyme replacement therapy (ERT) offers a specific treatment for patients with Fabry disease, though monitoring of treatment is hampered by a lack of surrogate markers of response. In this study, the efficacy of long-term ERT in six Fabry hemizygotes and two symptomatic heterozygotes has been evaluated. Patients were administered recombinant α-galactosidase A every 2 weeks for up to a year. The efficacy of ERT was asses..