About Pompe Disease

What is Pompe disease?

Pompe disease is a rare disorder affecting 1 in 40,000 people in the UK.

The information on this website is not intended as a substitute for the Patient Information Leaflet (PIL) or advice from your healthcare specialist.

Pompe disease is caused by the build-up of a type of sugar called glycogen in the body’s cells. Glycogen is used as an energy store by the body.

When we need energy, glycogen is broken down into smaller sugar molecules by certain proteins (called enzymes) in specific compartments of cells called lysosomes.

One particular enzyme involved in this process – acid-alpha glucosidase (gloo-ko’sĭ-dās), also called ‘GAA’ – is often missing or not working properly in people with Pompe disease. This means that glycogen can builds up inside cells, and this leads to the symptoms of Pompe disease.

Did you know?

Depending on where you live, Pompe disease is estimated to affect every 1 in every 40,000 people.
Around 75% of Pompe disease cases are the late-onset type.
Nearly 600 different gene mutations are associated with Pompe disease.
It can take more than 10 years for some individuals with late-onset Pompe disease to receive their diagnosis.
Pompe disease is also known as:
- Glycogen storage disease type II
- GAA deficiency
- Acid maltase deficiency.

What is late-onset Pompe disease?

There are two types of Pompe disease; we will focus on the late-onset form of Pompe disease here.

Late-onset

Symptoms may not appear right away and can happen at any time, with the most common ones being muscle weakness and trouble breathing.

Infantile-onset

Symptoms often appear during the first year of life and tend to get worse quickly.

The gene behind Pompe disease

Inheritance pattern of Pompe disease. Adapted from Wexler, M. 2023.

There are nearly 600 different mutations which can happen in the gene for the GAA enzyme.
How bad someone’s Pompe disease gets and how early it begins usually depends on the type of change that occurs and how much working GAA enzyme they have in their body.

Symptoms of Pompe disease

While Pompe disease can appear at any age, the late onset form typically occurs in children and adults. The signs and symptoms of late-onset Pompe disease can vary.

If you are worried about any of your Pompe disease signs and symptoms, please talk to your healthcare professional.

Common symptoms of late-onset Pompe disease affecting different parts of the body.

Diagnosing Pompe disease

This diagram shows an example of how your Pompe disease journey may have looked, from diagnosis to possible treatment. For some people, it can take over 10 years to be diagnosed with Pompe disease after they first notice symptoms. If a Pompe disease diagnosis is found, it is recommended that close family members are also tested.

Your Pompe disease journey.

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You may be asked to complete additional tests as part of your ongoing assessments.
Some of these are detailed below. Please note, it is likely a range of healthcare professionals will help you complete these tests, not just your Pompe specialist.

Lung function tests

You may be asked to breathe into a tube apparatus (called a ‘spirometer’) to measure how much air you can quickly blow out after taking a deep breath. Your doctor will assess something called forced vital capacity or FVC, and results will help monitor how well your lungs are working.

Blood Tests

It’s important to measure the levels of two particular enzymes in your blood, creatine kinase (CK) and alanine transferase (ALT). Increased levels of these two enzymes are common in Pompe disease patients. For example, CK levels are typically 1.5–15 times higher than the normal upper limit in adults.

Muscle strength tests

Performing simple movements for your doctor can help them assess your muscles and how strong they are.

Bone density tests

The most common test is a type of x ray. It uses radiation to measure how much calcium and other minerals are in your bones. Your results will likely be a Z score or a T score.

Muscle MRI

A useful tool to visual changes to your muscle tissue.

Heart studies

You may undergo scans and tests to monitor the structure and activity of your heart.

If you have any additional questions about your Pompe disease, please contact your healthcare professional.

NP-AT-GB-00010124 | October 2024

References

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