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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.
The late onset form of Pompe disease is due to a partial deficiency in alpha-glucosidase. Symptoms can begin at any time, from childhood to adulthood. In this form of the disease, muscle weakness eventually leads to breathing problems and death from lung failure. The heart may be involved, but it will not be enlarged.