Unwarranted, long term, alglucosidase alfa enzyme replacement therapy in two non-Pompe disease patients

Abstract Late onset Pompe disease (LOPD) can present a diagnostic challenge considering its phenotypic variance. Neurologists should question the LOPD diagnosis if the workup reveals a normal CK, EMG and muscle biopsy. A borderline acid α- glucosidase (GAA) activity can be misleading - genetic testing should be completed prior to enzyme replacement therapy (ERT). In this article we present 2 patients on long term ERT who were misdiagnosed as having LOPD because of borderline GAA.