What is Pompe disease?
Pompe disease (also called glycogen storage disease type II) is caused by the body not having enough of an enzyme called alpha-glucosidase. Without normal levels of this enzyme, extra amounts of a form of sugar, called glycogen, build up in the cells of the body. This can cause muscle weakness, problems feeding, difficulty breathing and sometimes heart, spleen and liver problems. These problems can be fatal if they are not treated. While many people born with Pompe disease will begin to have symptoms when they are infants, some people will not show signs of the disease until they are older.
How common is Pompe disease?
About 1 in 40,000 babies are born with Pompe disease each year in the United States.
What can be done for Pompe disease?
Identifying this condition early (soon after birth) may lead to reduced symptoms and an improved quality of life. Certain symptoms of this condition can be treated with physical and occupational therapies. There is also a form of treatment that replaces the missing alpha-glucosidase enzyme - this is called enzyme replacement therapy (ERT). While ERT isn’t a complete cure for Pompe disease, it can make many of the symptoms less severe, helping people with Pompe disease live longer, fuller lives.
How is Pompe disease inherited?
Pompe disease is caused by changes in the GAA gene. It is a recessive inherited condition, which means that a person must inherit two altered copies of the GAA gene, one from each parent, in order to have the disease. People who have only one copy of the altered GAA gene are called carriers, and are not expected to have symptoms of the condition. If a baby is identified as a carrier for Pompe disease through Eli screening, genetic counseling and additional testing in the parents is recommended