How Can an Enzyme Activity Test Help Diagnose Pompe Disease?

How Can an Enzyme Activity Test Help Diagnose Pompe Disease?
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One test that doctors use to diagnose Pompe disease, a rare genetic disease caused by mutations in the GAA gene, is an enzyme activity test.

GAA provides cells with the instructions necessary to make an enzyme that plays a role in breaking down a complex sugar molecule called glycogen. Mutations in this gene mean that cells don’t have enough of the enzyme. This leads to glycogen accumulation, damaging cells and causing disease symptoms.

What is an enzyme activity test?

An enzyme activity test measures the amount of active enzyme in a sample. If your doctor suspects that you may have Pompe disease, you likely will be asked to undergo a test of GAA enzyme activity. A sample taken for test could be a small bit of blood, muscle, or skin.

How do I give a sample?

The type of sample your doctor uses often depends on how the laboratories in your area most commonly do the test.

Blood draws for an enzyme activity test are very simple and take only a few minutes. A few drops of blood are usually sufficient. A finger stick (or a heel stick for infants) is all that is necessary. However, your doctor might want to test for multiple conditions. So it is not uncommon for them to take a few milliliters of blood from the arm, especially in adult patients.

Preparation for a muscle or skin biopsy is slightly more complex. This is because it involves a small surgery. Your doctor will first numb the area. He or she will then use a surgical blade or a large needle to collect the sample. Depending on how the doctor obtains the sample, you may need one or two stitches to close the wound. After that, your doctor will bandage the site and give you care instructions. You will have to keep the area clean and watch for signs of infection. The doctor will send the samples to a laboratory for testing.

What do the results mean?

It takes a few days to a few weeks for the results to become available.

The laboratory will compare the enzyme activity from your samples with control samples from people with normal levels of GAA activity.

A muscle biopsy sample is generally large enough that clinicians can also stain it for glycogen. If large amounts of glycogen are present, in combination with low levels of GAA activity, this may indicate Pompe disease.

If you have very low levels of GAA activity, your doctor will discuss whether you need to undergo additional tests to confirm a Pompe diagnosis.

In case your doctor diagnoses you with Pompe, he or she will discuss the next steps regarding disease treatment and symptom management.

 

Last updated: July 14, 2020

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Pompe Disease News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website.

Emily holds a Ph.D. in Biochemistry from the University of Iowa and is currently a postdoctoral scholar at the University of Wisconsin-Madison. She graduated with a Masters in Chemistry from the Georgia Institute of Technology and holds a Bachelors in Biology and Chemistry from the University of Central Arkansas. Emily is passionate about science communication, and, in her free time, writes and illustrates children’s stories.
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Özge has a MSc. in Molecular Genetics from the University of Leicester and a PhD in Developmental Biology from Queen Mary University of London. She worked as a Post-doctoral Research Associate at the University of Leicester for six years in the field of Behavioural Neurology before moving into science communication. She worked as the Research Communication Officer at a London based charity for almost two years.
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Emily holds a Ph.D. in Biochemistry from the University of Iowa and is currently a postdoctoral scholar at the University of Wisconsin-Madison. She graduated with a Masters in Chemistry from the Georgia Institute of Technology and holds a Bachelors in Biology and Chemistry from the University of Central Arkansas. Emily is passionate about science communication, and, in her free time, writes and illustrates children’s stories.
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