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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 caused by mutation of the acid alpha-glucosidase gene (GAA) gene. More than 100 different mutations in the GAA gene have been identified in families with this disorder. Mutations of the GAA gene in Pompe disease are inherited as an autosomal recessive trait.