Agalsidase alfa therapy for Fabry disease.

Fabry disease is a lysosomal storage disorder that results in neuropathic pain, progressive renal dysfunction, cardiomyopathy and stroke in affected individuals. The disease is caused by mutations in the GLA gene coding for α galactosidase A. The resulting deficiency of this enzyme causes accumulation of neutral glycosphingolipids in various tissues. Recombinant human agalsidase alfa has been developed to treat patients with Fabry disease. Preliminary data on this form of enzyme replacement therapy suggest that it improves pain, stabilizes renal function and improves cardiac hypertrophy in some patients. More data are needed on the ability of this therapy to prevent cardiac events, stroke and death.