Therapy for Lysosomal Storage Disorders

Beck M (2007) New therapeutic options for lysosomal storage disorders enzyme replacement, small molecules and gene therapy. Hum Genet 121 1-22... 

Gene therapy progress for lysosomal storage disorders as of 2004... 

There are over 40 lysosomal storage disorders (LSDs) characterized by the specific enzyme deficiency and accumulated substrate. Pathologies associated with LSDs are multisystemic and variable including CNS, skeletal, cardiovascular, renal, and ocular system involvement. The aggregate incidence is estimated to approach 1 in 7000 live births (Ellinwood et al., 2004). Inheritance for LSDs is primarily autosomal recessive with the exception of two X-linked diseases (Fabry and mucopolysaccharidosis (MPS) II). Treatment for LSDs relies on providing functional enzyme to the lysosomes of affected cells and has traditionally been confined to bone marrow transplantation, and enzyme replacement therapy (ERT). 

Richards, S. (2002) Immunological considerations for enzyme replacement therapy in the treatment of lysosomal storage disorders. Clinical and Applied Immunology Reviews, 2, 241 253. 

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