Differential Approaches to Therapy in Lysosomal Storage Disorders

摘要: The discovery that lysosomal storage diseases were due to inherited enzyme deficiencies made it worthwhile investigate whether these conditions amenable replacement therapy. It was reasoned exogenous enzymes would reach the lysosomes via endocytosis. This idea sustained by successful correction of mucopolysaccharide in cultured fibroblasts from patients with Hurler’s and Hunter’s disease1. Numerous attempts at treatment have been reported over past 20 years. initial strategy has parenteral administration purified enzyme. At present supplementation transplanted bone marrow cells is considered promising. expected, response will vary dependent on particular deficiency organs affected. Moreover, clinical diversity within a disorder may necessitate use different therapeutical approaches. A short overview therapy given, studies Glycogenosis type II are discussed.