Abstract:

ABSTRACT: As an X-linked lysosomal storage disease，Fabry disease results from mutations in the GLA gene that encodes the lysosomal enzyme α-galactosidase A. A functionally relevant reduction of enzyme activity results in the accumulation of glycosphingolipid, predominantly globotriaosylceramide (Gb3), within multiple tissues, which causes systemic manifestations. In order to improve the existing diagnostic system of Fabry disease, the previous diagnostic methods, especially the latest development of biomarkers is reviewed.

Key words: Fabry disease , diagnostic methods , biomarkers