Survival, Quality of Life and Effects of Enzyme Replacement Therapy in Adults with Pompe Disease

Abstract

Pompe disease, or glycogen storage disorder type II, is a rare inherited metabolic disorder caused by deficiency of the lysosomal enzyme acid α-glucosidase. This results in accumulation of glycogen in cells throughout the body, particularly muscle cells. The disease presents with (progressive) muscle weakness and can hence be categorized as a lysosomal storage disorder, a glycogen storage disorder and also a neuromuscular disorder. Pompe disease was the first neuromuscular disorder for which treatment became available, and the development of enzyme replacement therapy for Pompe disease has played a fundamental role in the development of therapies for other rare diseases including neuromuscular and lysosomal storage disorders. This introductory chapter reviews the history, pathophysiology and clinical characteristics of Pompe disease and provides an overview on the effects of enzyme replacement therapy