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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.
Pompe disease is diagnosed by screening for the common mutations in the GAA gene, by measuring the level of the GAA enzyme in a blood sample, or by a muscle biopsy. Once a diagnosis is obtained, consultation with a geneticist and screening of other family members is recommended.