Lysosomal alpha-1,4-glucosidase deficiency

Lysosomal alpha-1,4-glucosidase deficiency, commonly referred to as Pompe disease or glycogen storage disease type II, is an inherited autosomal recessive metabolic disorder caused by pathogenic variants in the *GAA* gene The condition impairs the breakdown of lysosomal glycogen, causing toxic accumulation of glycogen within tissues throughout the body, most notably in cardiac, skeletal, and smooth muscle cells Clinically, the disease presents across a continuous spectrum ranging from infantile-...

Lysosomal alpha-1,4-glucosidase deficiency, commonly referred to as Pompe disease or glycogen storage disease type II, is an inherited autosomal recessive metabolic disorder caused by pathogenic variants in the *GAA* gene

Lysosomal alpha-1,4-glucosidase deficiency, commonly referred to as Pompe disease or glycogen storage disease type II, is an inherited autosomal recessive metabolic disorder caused by pathogenic variants in the *GAA* gene The condition impairs the breakdown of lysosomal glycogen, causing toxic accumulation of glycogen within tissues throughout the body, most notably in cardiac, skeletal, and smooth muscle cells Clinically, the disease presents across a continuous spectrum ranging from infantile-...

The condition impairs the breakdown of lysosomal glycogen, causing toxic accumulation of glycogen within tissues throughout the body, most notably in cardiac, skeletal, and smooth muscle cells

Clinically, the disease presents across a continuous spectrum ranging from infantile-onset forms—characterized by severe hypertrophic cardiomyopathy, profound hypotonia, and early cardiorespiratory failure—to late-onset forms manifesting in children or adults with progressive proximal limb-girdle weakness and respiratory insufficiency