Pompe Disease and Pregnancy

Emily Malcolm, PhD avatar

by Emily Malcolm, PhD |

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pompe disease and pregnancy

Pompe disease is a rare disorder caused by mutations in a gene called GAA, which provides instructions for making an important enzyme called acid alpha-glucosidase (also known as acid maltase). This enzyme is responsible for breaking down a sugar molecule called glycogen to provide energy to cells. Because of the mutation, the enzyme cannot work efficiently. This results in glycogen building up inside cells and impairing the functioning of different organs and tissues, especially muscles. As a result, patients experience muscle weakness, among other symptoms.

These symptoms can contribute to pregnancy complications. Case studies have shown that symptoms of Pompe disease, especially muscle weakness and respiratory symptoms, can worsen during pregnancy.

It’s important to discuss with your doctor the risks of becoming pregnant with Pompe disease, and any potential harm that medications you are taking might cause the fetus.

Can patients with Pompe disease become pregnant?

Yes. Many women with the Pompe disease have delivered safely, and their babies have been healthy. However, muscle weakness and respiratory symptoms may become worse during pregnancy. Even if patients have not experienced these symptoms previously, they may develop during pregnancy.

What are the risks of Pompe disease to the pregnancy?

Pregnancy involves many stressful changes to a woman’s body to support the fetus, from supplying nutrients, supporting fetal growth, and physically preparing for birth. Pompe disease can mean these changes are more stressful for the body. There have not been many studies on how Pompe disease affects pregnancy. Especially, for mothers who are receiving treatment for Pompe disease, how that treatment may affect the fetus has not been studied.

Can my baby inherit Pompe disease?

Pompe disease is a heritable condition. Patients with Pompe disease potentially can pass the disease onto their children. If you have Pompe disease, it may be a good idea for your partner to be tested to determine whether your children are at risk of inheriting disease-causing genes from both parents. Your doctor and a genetic counselor can discuss with you the results of your genetic tests.

Can I find out, before birth, if my baby will have Pompe disease?

Yes. There are procedures for genetic testing prior to birth, such as amniocentesis and chorionic villus sampling.

Amniocentesis involves inserting a needle into the uterus to collect a small sample of amniotic fluid (the fluid that surrounds and protects the baby during gestation). This fluid contains cells from the baby that can be used to obtain the baby’s DNA for genetic testing.

Chorionic villus sampling involves taking a small sample of the placenta (which contains the baby’s DNA). This tissue can be collected through the cervix or through the abdomen.

What precautions should I take during pregnancy if I have Pompe disease?

The specific precautions you may need to take will be very individual to your case. Since Pompe disease is very rare, it may be necessary for the obstetrician handling your pregnancy to consult with your primary care physician. You should discuss whether your medication will need to be changed during your pregnancy. You also should keep a detailed log of your symptoms so that you can discuss with your care team whether any symptoms require additional treatment.

What happens after the baby is born?

You should discuss with your care team whether you will be breastfeeding after giving birth and whether your medications will need to change while you are nursing.

If your baby has not undergone genetic testing prior to birth, you should discuss with your doctor whether he or she should be tested for Pompe disease.


Last updated: April 14, 2020


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.