Global Pompe Disease Treatment Market 2016-2020; New Report Launched
Lysosomal storage diseases (LSDs) are a group of progressive, autosomal recessive, and hereditary disorders characterized by the accumulation of specific substrates and variable age of onset and clinical symptoms. Pompe disease, a type of LSD, is caused by mutations in the GAA gene. These mutations inhibit the mechanism of action (MOA) of GAA; it is an enzyme responsible for catabolizing glycogen, resulting in accumulation of glycogen to toxic levels in the lysosomes of the cells.
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