Pompe disease is a rare lysosomal disease that may present in childhood (early onset) or in adulthood (late onset). In both cases, the disease is due to a deficiency in the enzyme alpha-glucosidase (GAA).
In this exclusive interview with Rare Disease Report, Shafeeq Ladha, MD, of the Barrow Neurological Institute at St Joseph's Hospital in Phoenix AZ, talks about the pathophysiology of Pompe disease as well as the differences between early- and late-onset versions of the disease.
To learn more about how to differentially diagnosis adult onset Pompe disease, visit [ Ссылка ]
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