Pompe Disease

Overview

Pompe disease is an autosomal recessive lysosomal storage disorder caused by deficiency of acid alpha-glucosidase, leading to glycogen accumulation primarily in cardiac and skeletal muscle. The infantile-onset form presents with severe cardiomyopathy and hypotonia, while late-onset forms manifest as progressive proximal muscle weakness and respiratory insufficiency. The estimated prevalence is 1 in 40,000 live births across all ethnic groups.

Available Treatments (0)

Classification & Codes