Lysosomal Storage Disorders

In most lysosomal storage disorders, an inherited deficiency of a specific lysosomal enzyme results in the accumulation of undegraded substrates within the lysosome. In the absence of an informative family history, diagnosis of lysosomal storage disorders requires a high degree of clinical suspicion. Effective treatment of lysosomal storage disorders self-evidently involves reduction of the stored compound and prevention of its re-accumulation. This has been achieved by elevation of enzyme activity by stem cell transplantation, infusion of the missing enzyme (enzyme replacement therapy or ERT) or stabilization of protein folding variants by pharmacological chaperones. In view of recent advances in therapy, Gaucher disease, Fabry disease and Pompe disease are presented in this chapter in greater detail. The use of inhibitors of glycolipid synthesis, including miglustat, appears promising in the therapy of Niemann-Pick disease type C.