Received December 15, 2003 Abstract In this article, we review specific therapies that tackle the basic biochemical defects of lysosomal storage diseases. These include bone marrow transplantation, substrate deprivation therapy, enzyme replacement therapy and enzyme enhancement therapy. We particularly update the progress of development of enzyme replacement therapy, which plays a major role in...

We demonstrated previously that short term administration of recombinant beta-glucuronidase to newborn mice with mucopolysaccharidosis type VII reduced lysosomal storage in many tissues. Lysosomal storage accumulated gradually after cessation of enzyme replacement therapy. Mice alive at 1 yr of age had decreased bone deformities and less lysosomal storage in cortical neurons. Here we compare th...

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Enzyme replacement therapy (ERT) with recombinant human alglucosidase alfa (rhGAA) in Pompe disease is moderately effective and a life-long therapy is warranted. Clinical investigations of temporary ERT interruption are lacking, but might be of clinical signifi cance (i.e. due to patient’s wish, adherence issues, holidays, or problems with drug supply). In Switzerland, ERT for Pompe disease was...