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Enzyme replacement therapy is currently available for some lysosomal diseases: Gaucher disease, Fabry disease, MPS I, MPS II (Hunter syndrome), MPS VI and Glycogen storage disease type II.
Dr. Brady and his colleagues identified the enzymatic defects in Gaucher disease (3.4), Niemann-Pick disease (5), Fabry disease (6) and the specific metabolic abnormality in Tay-Sachs disease (7,8).