Late-onset pompe disease: Case report of a patient with an uncommon mutation and observational clinical trial as to response to enzyme replacemant therapy (ERT) with alglucosidase alfa over a 12-month-period

Abstract

Late-onset glycogen storage disease type 2 (GSD2)/Pompe disease is a progressive multi-system disease evoked by a deficiency of lysosomal acid alpha-glucosidase (GAA) activity. GSD2 is characterized by respiratory and skeletal muscle weakness and atrophy, resulting in functional disability and reduced life span. Since 2006 alglucosidase alfa has been licensed as a treatment in all types of GSD2/Pompe disease.