Molecular Neurobiology

, Volume 32, Issue 1, pp 43–50

Enzyme replacement therapy of fabry disease


DOI: 10.1385/MN:32:1:043

Cite this article as:
Clarke, J.T.R. & Iwanochko, R.M. Mol Neurobiol (2005) 32: 43. doi:10.1385/MN:32:1:043


Fabry disease is an X-linked lysosomal storage disease caused by deficiency of the enzyme α-galactosidase A and results in pain, progressive renal impairment, cardiomyopathy, and cerebrovascular disease. The results of two major randomized, double-blind, placebo-controlled clinical trials and open-label extensions have shown that replacement of the deficient enzyme with either of two preparations of recombinant human α-galactosidase A, agalsidase-alfa, and agalsidase-beta is safe. Biweekly IV infusions of 0.2 mg/kg of agalsidase-alfa were associated with a significant decrease in pain and stabilization of renal function. Biweekly infusions of 1 mg/kg of agalsidase-beta were associated with virtually complete clearing of accumulated glycolipid substrate from renal and cutaneous capillary endothelial cells. Several smaller, open-label studies, along with observations made in the course of monitoring large numbers of patients on enzyme replacement therapy, indicated that treatment stabilizes renal function and produces significant improvements in myocardial mass and function. Treatment of Fabry disease by enzyme replacement has a significant impact on at least some serious complications of the disease.

Index Entries

Fabry diseaseenzyme replacement therapylysosomal storage diseaseglycosphingolipidsα-galactosidase

Copyright information

© Humana Press Inc 2005

Authors and Affiliations

  1. 1.University of TorontoTorontoCanada
  2. 2.Division of Clinical & Metabolic GeneticsHospital for Sick ChildrenCanada
  3. 3.Division of Nuclear CardiologyUniversity Health NetworkCanada