1g. Pathway and Pathophysiology



This is pretty much the only graph that has been produced that delineates the frequency of each LSD. It was done by an Australian group in the 1990’s, and since then there hasn’t really been a good prevalence and frequency studies performed. This shows that Gaucher Disease is the most common lysosomal storage disease, followed by mucopolysaccharidosis and metachromatic leukodystrophy, MPS and Fabry Disease. These numbers are however quite out of date, because since the advent of the registries and enzyme replacement therapy it has been possible to keep track more efficiently with all these patients. We have better natural history, we have changed the landscape of the disease with people surviving longer. The numbers are also changing because of newborn screening.





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