Update on diagnosis and treatment of fabry disease

As an X-linked lysosomal storage disease, Fabry disease results from mutations in the GLA gene that encodes the lysosomal enzyme a-galactosidase A. A functionally relevant reduction of the enzyme activity results in the accumulation of glycosphingolipid, predominantly globotriaosylceramide(Gb3), within multiple tissues, which causes systemic manifestations. In order to improve the understanding of Fabry disease, here we systematically review its manifestations, diagnostic system and treatment including enzyme replacement therapy..