Figure 2: Cellular mechanisms of Fabry disease pathogenesis.

A pathogenic genetic mutation in the gene encoding α-Gal A causes decreased activity of this lysosomal enzyme. Subsequently α-Gal A substrates accumulate and lead to cellular dysfunction through multiple pathways. Substrate accumulation has been shown to alter the normal function of several subcellular components that are listed along with the corresponding effects observed in studies involving cells^c, Fabry patients^p, Fabry mice^m, and Fabry rats^r.