Pompe disease

Pompe disease is a rare genetic disorder caused by the deficiency of an enzyme called acid alpha-glucosidase (GAA). This enzyme normally breaks down a complex sugar called glycogen in the body’s cells. Without enough GAA, glycogen builds up mainly in muscle cells, including heart, skeletal, and respiratory muscles, leading to muscle weakness, poor muscle tone, and potential heart problems. Symptoms can appear at any age, from infancy to adulthood. While there is no cure, enzyme replacement therapy can help manage symptoms and improve quality of life. Early diagnosis and treatment are crucial for better outcomes.