PPT1 and Fabry disease: Furthermore, loss-of-function mutations in the proteins GLA, GBA, PPT1, ASAH1, GALC, HEXA, HEXB and FUCA1 are associated with lysosomal storage disorders, including Fabry’s disease, Gaucher’s disease, Neuronal ceroids lipofuscinosis, Krabbe’s disease, Sandhoff and Tay Sachs disease (62).