Table of Contents

ABSTRACT

Pompe disease is a well-described, genetically inherited lysosomal storage disease due to deficiency of acid α-glucosidase, with dramatic clinical implications. Hallmarks of the disease, depending on the phenotype, can include progressive motor and respiratory decline, along with hypertrophic cardiomyopathy. Therapies including enzyme replacement have emerged as highly effective and life-altering, with improvements in both longevity and quality of life. This discussion outlines the pathophysiology, genetics, and therapies associated with Pompe disease.

Keywords: Pompe disease, glycogen storage disease type II, cardiomyopathy, United States