Menu

Glycogen Storage Disease Type II

Glycogen Storage Disease Type II [GAA]: A malfunction in the enzyme acid alphaglucosidase resulting in toxic sugar buildup. There are 3 types of Pompe disease: classic infantile-onset (symptoms include: muscle weakness, poor muscle tone, failure to thrive, heart defects leading to death in the first year of life), non-classic infantile-onset (the following symptoms are usually apparent in the first year of life: delayed motor milestones, progressive muscle weakness, serious breathing problems, leading to death in early childhood), and late-onset (progressive muscle weakness onsetting in adolescence or adulthood, especially in the legs and the trunk, breathing problems that can lead to respiratory failure).

For detailed information about this disease visit : National Institutes of Health (NIH) >

Carrier Frequency by Ethnicity >