Pompe disease

Overview

Pompe disease is an autosomal recessive glycogen storage disorder caused by pathogenic variants in GAA, leading to acid alpha-glucosidase deficiency and lysosomal glycogen accumulation. Infantile-onset disease causes cardiomyopathy, hypotonia, respiratory failure, and feeding difficulties, while late-onset forms mainly cause limb-girdle weakness and respiratory insufficiency. It is rare, and multiple enzyme replacement therapies are established or approved in several jurisdictions.

Available Treatments (0)

Classification & Codes