Evaluation of the efficacy and safety of three dosing regimens of agalsidase alfa enzyme replacement therapy in adults with Fabry disease

Abstrakt

Fabry disease (FD) is a rare, X-linked glycosphingolipid storage disorders caused by mutations in the GLA gene (location chromosome Xq22.1). The resulting functional deficiency in the alpha-galactosidase A enzyme (EC 3.2.1.22) leads to accumulation of glycosphingolipids, especially globotriaosylceramide (Gb3), in lysosomes.

Klíčová slova

• adverse events
• exercise tolerance
• left ventricular hyperthrophy
• lysosomal storage disorders
• quality of life
• renal function