Pompe disease


What does it mean to have inherited a mutation or change in the gene for Pompe disease?

People have around 20,000 genes in every cell of our bodies. Almost all of our genes come in pairs. We get one copy of each gene from our mother in the egg cell and the other copy from our father in the sperm cell. Pompe disease is caused by having two non-working copies of the GAA gene. When a person has a non-working copy of a gene, it is due to a change in that gene and may also be called a mutation. A person with one working GAA gene and a mutation in their other gene are called carriers. Carriers do not have any symptoms of Pompe disease because they still have one working copy of the gene. They usually inherited the mutation from either their mother or their father, and they can pass on either the mutation or the working copy to each of their children. There is a 50% chance of passing on the mutation or non-working gene to each child.

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