UnitedPompe.com
Title
United Pompe Foundation
Description
Pompe disease is inherited as an autosomal recessive disorder. The term autosomal implies that males and females have an equal chance of being affected. Recessive means that in order to get Pompe disease, an individual has to inherit two faulty copies of the Pompe disease (GAA) gene. Children usually inherit 1 copy of any particular gene from each parent. The mutant GAA gene (trait) can be passed on from unaffected parents (carriers) to their children. The likelihood of children born from Pompe disease carrier parents to suffer the disease is 25% (1 out of 4). Parents who carry a faulty copy of the GAA gene also have a normal copy of the gene. One normal copy of the gene generates enough GAA activity to prevent excess storage of lysosomal glycogen.
Pompe disease is very rare. The incidence, or the chance of being born with Pompe disease, is estimated at about one in every forty thousand live births. The estimated frequency of Pompe disease may vary among different ethnic groups and nationalities:
Assuming a disease frequency of 1 in 40,000 births, the number of people with Pompe disease worldwide is estimated to be somewhere between 5,000 and 10,000 cases.
