Pompe disease is a rare inherited metabolic disease of impaired lysosomal glycogen metabolism due to acid alpha-glucosidase (GAA) deficiency, which leads to progressive muscle weakness. Our biochemical and histologic evaluation of muscles of Gaa knockout (KO) mice revealed extensive cellular dysfunction, as evidenced by pronounced autophagy and lysosomal proliferation and potentially altered membrane repair. To date, enzyme replacement therapy using the recombinant human GAA (rhGAA) alglucosidase alfa is the only approved treatment available for Pompe disease.

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