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). Here, PPT1 is linked to neuronal ceroid lipofuscinosis.