What is a Lysosomal Storage disease?

ease. The underlying metabo lic defect i s deficiency of lysosomal enzyme cer amidetrihexosidase. The disease has multisystem i nvo lvement. Neur ol og ical man ifestations i ncl ude smal l-fiber po lyneuropathy man ifested as painful distal extr emities and anhidrosis. Fabry’s disease also presents with both s ma ll -v ess el a nd cor ti cal mu l ti pl e cerebral i nfarcts. Enzyme-replacement therapy has been found effective but expensive. Gene therapy could evolve as the u ltimate therapeutic str ategy.