strategies in enzyme replacement therapy of lysosomal storage disorders

lysosomal storage diseases (lsds) result from a genetic defect in synthesis and cellular transport of lysosomal enzyme to the lysosomes. lsds are progressive and may present at any age affecting multiple tissues and organ systems. they comprise a diverse group of over 40 clinically distinct inherited disorders. as a group they occur in approximately 1 in 5000 to 8000 births in the western societies. currently, there are no cures available for lysosomal storage diseases and treatment has been mostly symptomatic. in recent years, enzyme replacement therapy (ert) has become a reality for seven lsd and their non-neuronopathic manifestations, what has altered the natural history for many of these disorders. however, the success of ert has been variable depending on pathophysiology of disease, time of initiation of therapy and treatment strategies. considering the complexity and progressive nature of enzyme deficiencies of the storage disorders early diagnosis and treatment is the most important factor in reaching optimal results. in order to maximize the efficacy of enzyme replacement therapy, disease specific treatment and follow up guideline has been developed for each disorder. therefore, it is important to consider these disease specific guidelines when treating affected individuals. here the available treatment guideline and ongoing studies in this regard will be discussed.