Current Enzyme Replacement Therapy for the Treatment of Lysosomal Storage Diseases

Lysosomal storage diseases encompass a diverse group of progressive multisystemic disorders that lead to signifi cant morbidity and eventual death if left untreated. There is no cure for these disorders; however, ERT has had a major impact on management and outcome for many patients. The complications related to these lysosomal storage disorders may not be reversible with ERT; therefore, it is important to recognize the clinical manifestations early in the course of the disease so that treatment can be initiated in hopes of preventing irreversible organ damage. ERT has only been available for a short period of time, and long-term studies are necessary in order to determine the impact of ERT on disease progression and long-term survival. At this time treatment of skeletal and CNS dysfunction remains limited; however, ongoing research and development of other modalities such as small molecule therapy may be of further benefi t in the future.