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Enzyme Replacement Therapy in Pompe Disease

Annalisa Sechi, MD, Andrea Dardis, PhD, and Bruno Bembi, MD

Glycogen storage disease type II (also known as Pompe disease or acid maltase deficiency; Online Mendelian Inheritance in Man [OMIM] 232300), is an autosomal recessive lysosomal storage disease (LSD) caused by deficiency of acid α-glucosidase (GAA) activity. The disease is characterized by lysosomal accumulation of glycogen in cardiac, skeletal, and smooth muscle tissue, resulting in progressive cardiac, motor, and respiratory failure [1]. GAA is encoded by the GAA gene (OMIM 606800), located on chromosome 17q25.2-q25.3, and is synthesized as an inactive 110 kDa precursor, which is transported to prelysosomal and lysosomal compartments via the mannose-6-phosphate receptor. There, it is processed into a 95 kDa intermediate form and the 76 kDa and 70 kDa fully active forms [1].

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