Replacement of alpha-galactosidase A in Fabry disease: effect on fibroblast cultures compared with biopsied tissues of treated patients

Abstract

Study of the function and intracellular delivery of enzyme therapeutics for Fabry disease showed biological diversity of affected cells in response to treatment. The Findings support the strategy of early treatment for prevention of lysosomal storage.

Keywords

• alpha-galactosidase A deficiency
• enzyme replacement therapy
• persistent storage
• enzyme targeting
• clearance of storage lysosomes