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.
Crossing Jordan (There's No Place Like Home, season 2 episode 1) features a patient who died suffering Fabry disease.
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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).