Pompe disease is a rare genetic
condition that causes muscle weakness that gets worse over time. It can have a serious
effect on many of the body's systems.
Pompe disease is also called acid maltase deficiency disease and glycogen storage
disease type II.
What Are the Signs & Symptoms of Pompe Disease?
Children with Pompe (pom-PAY) disease may have:
muscle weakness that can make it hard to walk
The younger a child is at diagnosis, the more severe these symptoms can be. For
example, babies with Pompe disease have life-threatening problems from an enlarged
heart, and can have trouble breathing, eating, and gaining weight.
What Causes Pompe Disease?
Pompe disease happens because of a mutation (a change) in a gene that helps make
an enzyme called alpha-glucosidase. This enzyme breaks down a type of glucose
When the enzyme is not made properly, glycogen builds up in the body's cells. This
stops the cells — especially those in the body's muscles, including the heart — from
working as they should.
Who Gets Pompe Disease?
Pompe disease can be:
infant-onset: symptoms begin in the first few months after birth
late-onset or delayed-onset: symptoms appear later in childhood or in adulthood
Pompe disease affects males and females equally.
How Is Pompe Disease Diagnosed?
Doctors will do an exam, ask about symptoms, and find out whether any family members
have Pompe disease or similar symptoms.
A blood test can look at the alpha-glucosidase enzyme in the blood. People with
Pompe disease will have less than normal or no enzyme activity at all. Another type
of blood test can look for the mutation in the gene itself.
Newborn babies are screened
for many diseases, and in some U.S. states, Pompe disease is one of them.
Diagnosis before birth might be done if another child in the family has the disease
and the genetic mutation is found.
How Is Pompe Disease Treated?
In the past, many infants with Pompe disease lived only into early childhood. But
today those odds are improving. Enzyme replacement therapy can extend the lives of
babies with infant-onset Pompe disease. It also helps people with late-onset disease.
Getting care from a team of medical specialists helps many children with Pompe
disease live well into adulthood. This is especially true when the disease is diagnosed
in an older child. The care team includes: