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Pompe Disease. Pompe disease is a hereditary disorder that disables the heart and muscles. It is rare, most often times fatal, and found 1 in every 40,000 births. The disorder is caused by mutations in the gene that makes the enzyme alpha-glucosidase (GAA), which reduces or eliminates the enzyme alpha-glucosidase.
If you or your child has Pompe disease, it's important to know that each case is different, and that doctors have treatments to help manage it. Pompe disease happens when your body can't make a protein that breaks down a complex sugar, called glycogen, for energy. Too much sugar builds up and damages your muscles and organs. Pompe disease causes muscle weakness and trouble breathing. It mostly affects the liver, heart, and muscles.