OBJECTIVE. Pompe disease is an autosomal recessive lysosomal storage disorder that is
caused by deficient acid α-glucosidase activity and results in progressive, debilitating, and
often life-threatening symptoms involving the musculoskeletal, respiratory, and cardiac
systems. Recently, enzyme replacement therapy with alglucosidase α has become possible,
but the best outcomes in motor function have been achieved when treatment was initiated
early. The aim of this study was to test the feasibility of screening newborns in Taiwan for …