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Pompe Disease and the Contribution of Autophagy to its Pathogenesis

Nina Raben, MD, PhD, Mary Barden, BS, Amanda Wong, BA, and Paul H Plotz, MD

Pompe disease, a rare autosomal-recessive myopathy and cardiomyopathy, falls under the classification of several groups of disorders. One such group is the glycogen storage diseases, which are further subdivided into liver or muscle glycogenoses. Pompe disease is a muscle glycogenosis disorder with progressive muscle weakness. This disease also belongs to a large group of lysosomal storage diseases (LSDs) that are characterized by the functional loss of a particular enzyme that resides in the lysosome. The enzyme that is deficient or missing in Pompe disease is acid α-glucosidase (GAA), also known as acid maltase. This enzyme is responsible for the degradation of glycogen to glucose in the acidic environment of the lysosome. As GAA is the only enzyme that performs this function in the lysosome, its deficiency leads to glycogen accumulation within this cellular compartment. Pompe disease affects multiple tissues, but skeletal and cardiac muscles are particularly vulnerable to the accumulation of storage material (reviewed in [1]).

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