Pompe disease is a rare inherited condition that affects how the body stores and uses sugar (called glycogen). Normally, an enzyme called acid alpha-glucosidase (GAA) helps break this sugar down for energy. When the body doesn’t make enough of this enzyme, glycogen builds up, especially in the muscles.
Over time, this build-up weakens muscles, including those used for movement, breathing, and even the heart. Pompe disease can show up at any age. In babies, symptoms may appear within the first few months and can include poor feeding, weak or “floppy” muscles, an enlarged heart, and breathing difficulties. When it starts later in life, the condition typically progresses more slowly, primarily affecting mobility, such as walking, climbing stairs, and breathing.
Pompe disease is diagnosed through enzyme tests and confirmed with genetic testing. In many places, newborn screening now helps detect it early. While there’s no cure, enzyme replacement therapy (ERT) can slow the disease and greatly improve quality of life.
