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Pompe disease

(pahmp-AY • disease)

General Condition Information

Other Names

  • Acid Maltase deficiency
  • Glycogen storage disease type II (Pompe disease)
  • Glycogen storage disease type II (Pompe)
  • Pompe
  • Pompe disease (Glycogen storage disease type II)
  • Pompe Disease, infantile onset

Condition Type

Birth Prevalence

  • About a hundred babies are born with some form of this condition each year in the United States. 
  • Visit GeneReviews to learn more about how often this condition occurs.

Screening Finding

Decreased GAA enzyme activity

What is Pompe disease

Pompe disease is an inherited (genetic) condition that prevents the body from processing sugars properly. Pompe disease is named for the first doctor to describe the condition.

Your body stores extra sugar as glycogen, which it then uses for energy. An enzyme called acid alpha-glucosidase (GAA) breaks down glycogen to help provide that energy. This process takes place in lysosomes, which are special compartments in your cells that process many nutrients your body needs.

Pompe disease develops when GAA is present at low levels or is not built correctly. This makes it harder for lysosomes to break down glycogen. The build-up of glycogen affects the function of cells in the body’s organs, especially in the muscles.

There are three types of Pompe disease that differ in signs and symptoms and age of onset. These three types are known as classic infantile-onset, nonclassic infantile-onset, and late-onset. The type your baby has depends on how well their body can break down glycogen.

Without treatment, high levels of glycogen can damage the heart, liver, and muscles. This damage leads to the signs and symptoms of the condition.

Newborn Screening and Follow-Up

Condition Details

Treatment and Management

It is important to talk to your health care provider about which treatment(s) are best for your baby. The goal of treatment is to prevent the health problems caused by this condition.

Treatments may include the following:

Children who receive early and ongoing treatment for Pompe disease can live longer and have better growth.

Date Last Reviewed: