About

Pompe disease

Pompe disease is a rare, multisystemic, autosomal recessive lysosomal storage disorder (LSD) caused by pathogenic variants in the GAA gene coding for the enzyme acid alpha-glucosidase (GAA).¹GAA is responsible for the degradation of glycogen. When GAA is deficient or absent, glycogen accumulates in the lysosomes and causes cellular damage, tissue damage, and eventual organ dysfunction. In the late-onset subtype of Pompe disease, organ dysfunction is primarily characterised by progressive muscle weakness and respiratory insufficiency.¹ Learn more by exploring the sections below.