Journal article

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

PD Whitfield, J Calvin, S Hogg, E O'Driscoll, D Halsall, K Burling, G Maguire, N Wright, TM Cox, PJ Meikle, PB Deegan

JOURNAL OF INHERITED METABOLIC DISEASE | SPRINGER | Published : 2005

Abstract

Anderson-Fabry disease (referred to as Fabry disease) is an X-linked disorder characterized by a deficiency of the lysosomal enzyme alpha-galactosidase A and the subsequent accumulation in various tissues of globotriaosylceramide (Gb(3)), 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 alpha-galactosidase A every 2 weeks for up to a year. The efficacy of ERT..

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