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What are the causes and risk factors for Pompe Disease?

Pompe disease is caused by a change in the gene that makes the enzyme acid alpha-glucosidase (GAA). The GAA gene holds the instructions to make the GAA enzyme. Everyone has two copies of the GAA gene. In people with Pompe disease, both copies of the GAA gene have a change called a variant. This causes the cells to make GAA enzymes that can't do their job properly. Depending on the effect of the variant, the GAA enzymes may not work at all, or they may work more slowly than they should.

If a child has Pompe disease, it means both parents are most likely carriers of the disease. Carriers have one copy of the GAA gene that is normal, and one copy that has a disease-causing variant. Carriers have enough working GAA enzymes to keep glycogen from building up inside their cells, so they don't have the disease. But when both parents are carriers, their child has a 25 percent chance of receiving the faulty GAA gene from each parent and having Pompe disease. Gene variants just happen—there is nothing that parents do or don't do to cause their child to have Pompe disease.

Continue Learning about Autosomal Recessive Genetic Disorders

Important: This content reflects information from various individuals and organizations and may offer alternative or opposing points of view. It should not be used for medical advice, diagnosis or treatment. As always, you should consult with your healthcare provider about your specific health needs.