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Enzyme replacement therapy in patients with Fabry disease: state of the art and review of the literature.

Molecular genetics and metabolism (2012-09-12)
Antonio Pisani, Bianca Visciano, Graciana Diez Roux, Massimo Sabbatini, Caterina Porto, Giancarlo Parenti, Massimo Imbriaco
ABSTRACT

Anderson-Fabry disease is an X-linked lysosomal storage disorder resulting from the deficiency of the hydrolytic enzyme alpha galactosidase A, with consequent accumulation of globotrioasoyl ceramide in cells and tissues of the body, resulting in a multi-system pathology including end organ failure. In the classical phenotype, cardiac failure, renal failure and stroke result in a reduced median life expectancy. The current causal treatment for Fabry disease is the enzyme replacement therapy (ERT): two different products, Replagal (agalsidase alfa) and Fabrazyme (agalsidase beta), have been commercially available in Europe for almost 10 years and they are both indicated for long-term treatment. In fact, clinical trials, observational studies and registry data have provided many evidences for safety and efficacy of ERT in improving symptoms of pain, gastrointestinal disturbances, hypohidrosis, left ventricular mass index, glomerular filtration rate and quality of life. Few data are available on comparison of the two treatments and on the clinical course of the disease. This article reviews the published evidence for clinical efficacy of the two available enzyme preparations.

MATERIALS
Product Number
Brand
Product Description

Sigma-Aldrich
α-Galactosidase from green coffee beans, ammonium sulfate suspension, ≥9 units/mg protein
Sigma-Aldrich
α-Galactosidase, positionally specific from Escherichia coli, recombinant, expressed in E. coli, buffered aqueous solution
Sigma-Aldrich
α-Galactosidase I, Alkaline from Cucumis melo

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