Pompe Disease: Understand, Manage, & Live Well
What is Pompe Disease? Pompe disease (also known as Ziekte Pompe in Afrikaans) is a rare genetic disorder. Think of your body's cells as tiny power stations constantly working. In Pompe disease, these power stations struggle to break down glycogen (a type of stored energy) because of a missing or faulty GAA gene. This gene provides instructions for making an enzyme (alpha-glucosidase) essential for glycogen breakdown. Without this enzyme, glycogen accumulates inside the cells, causing damage, particularly impacting muscles, the heart, and the lungs....