Effect of the enzyme replacement therapy on clinical outcomes in patients with late-onset Pompe disease: a systematic review

Abstract

Introduction: Pompe disease (PD) is a rare glycogen storage disorder caused by a deficiency of the lysosomal enzyme acid alpha-glucosidase, which affects approximately one every 40’000 people. Late onset Pompe disease (LOPD) is a particular and heterogeneous clinical form of Pompe disease whose symptoms appear after the first year of life. LOPD is characterized by progressive skeletal myopathy, followed by respiratory muscle weakness. Without treatment, LOPD leads typically to an early death. Since 2006, PD can be treated with enzyme Show more