Pompe disease



What is pompe disease?

Pompe disease, also known as GAA deficiency or type II glycogen storage disease (GSD), happens when your body can’t make a protein that breaks down a complex sugar, called glycogen, for energy. Too much sugar builds up and damages your muscles and organs.

Pompe disease causes muscle weakness and trouble breathing. It mostly affects the liver, heart, and muscles. If you or your child has pompe disease, it’s important to know that each case is different, and that doctors have treatments to help manage it.

How common is pompe disease?

Although it can happen to anyone, it’s more common in African-American people and some Asian groups. It can be managed by reducing your risk factors. Please discuss with your doctor for further information.


What are the symptoms of pompe disease?

What symptoms you have, when they start, and how much trouble they are can be very different for different people.

A baby between a few months old and age 1 has early-onset, or infantile, pompe disease. This could look like:

  • Trouble eating and not gaining weight
  • Poor head and neck control
  • Rolling over and sitting up later than expected
  • Breathing problems and lung infections
  • Enlarged and thickening heart or heart defects
  • Enlarged liver
  • Enlarged tongue

If you’re older when symptoms start — as late as an adult in your 60s — it’s known as late-onset pompe disease. This type tends to move slowly, and it doesn’t usually involve your heart. You might notice:

  • Feeling weak in the legs, trunk, and arms
  • Shortness of breath, a hard time exercising, and lung infections
  • Trouble breathing while you sleep
  • A big curve in your spine
  • Enlarged liver
  • Enlarged tongue that makes it hard to chew and swallow
  • Stiff joints

There may be some symptoms not listed above. If you have any concerns about a symptom, please consult your doctor.

When should I see my doctor?

If you have any signs or symptoms listed above or have any questions, please consult with your doctor. Everyone’s body acts differently. It is always best to discuss with your doctor what is best for your situation.


What causes pompe disease?

You get pompe disease from your parents. To get it, you have to inherit two flawed genes, one from each parent.

You can have one gene and not have symptoms of the disease.


Risk factors

What increases my risk for pompe disease?

Please consult your doctor for more information.

Diagnosis & treatment

The information provided is not a substitute for any medical advice. ALWAYS consult with your doctor for more information.

How is pompe disease diagnosed?

Many symptoms are similar to other medical conditions. To help figure out what’s going on, your doctor may ask these following:

  • Do you feel weak, fall often, or have trouble walking, running, climbing stairs, or standing up?
  • Do you have a hard time breathing, especially at night or when you lie down?
  • Do you get headaches in the morning?
  • Are you often tired during the day?
  • When you were a child, what kinds of health problems did you have?
  • Does or did anyone else in your family have troubles like these, too?

You may need to get tests, depending on what symptoms you have, to rule out other conditions.

If your doctor thinks you might have pompe disease, it’s often confirmed with these tests:

  • Check a sample of muscle to see how much glycogen there is
  • Check a blood sample to see how well the “bad” protein is working
  • Look for the genetic problem that causes pompe disease

It can take about 3 months to diagnose pompe disease in a baby. It can take as long as 7-9 years for kids and adults. After doctors are sure, it’s a good idea to test family members for the gene problem, too.

How is pompe disease treated?

Early treatment, especially for babies, is key to holding off the damage in the body.

Two medications replace the missing protein and help your body process sugar correctly. You take them by injection.

  • Myozyme, for babies and children
  • Lumizyme

Lifestyle changes & home remedies

What are some lifestyle changes or home remedies that can help me manage pompe disease?

Living with pompe disease can be challenging. You and your family may want to see a counselor to help you come to terms with what’s happening, especially as your abilities change. A support group can also be a safe place to share your feelings and find understanding.

Support groups can be a good source of practical tips, too. For example, if you have trouble eating, you can try adding thickeners to your food to make it safer to swallow. You might need to use a feeding tube to make sure you get enough nutrients.

If you have any questions, please consult with your doctor to better understand the best solution for you.


Hello Health Group does not provide medical advice, diagnosis or treatment.

Review Date: October 16, 2017 | Last Modified: October 18, 2017

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