Newborn Screening for Pompe Disease

Mary Chapman avatar

by Mary Chapman |

Share this article:

Share article via email
newborn screening and Pompe disease

Natalia Deriabina/Shutterstock

Newborn screening for Pompe disease can help improve outcomes for babies and prevent a long diagnostic journey. Following is some information about newborn screening and how it can help the children and their parents.

About Pompe disease

Pompe disease is a rare genetic disease. It is characterized by the abnormal buildup of a sugar molecule called glycogen inside cells. This buildup impairs the function of various organs and tissues, especially the heart, respiratory, and skeletal muscles.

The lysosomal storage disorder has three types that differ in severity and age of onset. It affects roughly one in every 40,000 newborn babies in the U.S.

What is newborn screening?

Newborn screening is the process of testing newborn babies for serious, but treatable, conditions, including Pompe disease. The test, which usually is done 24–48 hours after birth, typically evaluates blood spots collected from a heel prick. Newborns also are screened for hearing disorders and certain heart problems using methods other than dried blood spots.

In the U.S., such programs currently screen about four million infants annually. Each state’s public health department decides the conditions for which it will test. The departments also develop and manage each state’s newborn screening program. These programs ensure that babies who, through testing, are suspected of having a certain condition, receive diagnostic testing and follow-up care.

The recommended uniform screening panel (RUSP) is a federal list of serious genetic disorders that infants can be tested for shortly after birth. Disorders on the RUSP are chosen based on evidence that supports the potential net benefit of screening, the ability of states to screen for the disorder, and the availability of effective treatments.

It is recommended that every newborn be screened for all disorders on the RUSP. But each state ultimately determines the disorders for which they will screen. The cost for states to screen can be substantial. Factors that affect cost include new machinery, the capacity of existing screening labs, and the degree of additional staff training.

Currently, no new disorders are being added to the RUSP because the U.S. Senate failed to reauthorize the Newborn Screening Saves Lives Act before it expired Sept. 30, 2019.

Across the U.S., 20 states are now screening newborns for Pompe disease. At the same time, there is a push in Europe to step up screening for a multitude of genetic disorders.

What is the benefit of newborn screening?

In Pompe disease, early diagnosis allows treatment to begin soon after birth, and babies who receive treatment early are less likely to need a ventilator to help them breathe, improving chances of survival.

Enzyme replacement therapy (ERT) can reduce the accumulation of glycogen inside cells. In the U.S., Lumizyme (alglucosidase alfa) by Sanofi Genzyme is approved for the treatment of Pompe disease. Physicians recommend that ERT be started early before major muscle damage occurs.

The discovery of a new combination of mutations causing classic infantile-onset Pompe disease, which researchers described in a recent case report, highlights the importance of screening for early detection.

Researchers also say that newborn screening seems better at identifying Pompe disease cases than a clinical examination, especially for classic infantile-onset Pompe.

Finally, screening newborn babies for genetic conditions such as Pompe disease gives parents the opportunity to plan future pregnancies in an informed way and explore reproductive options available to them.

How does newborn screening work?

If your baby was screened for Pompe disease and the test result suggests they may have the disease, your baby’s doctor or the state screening program will contact you to arrange for additional testing.

Follow-up testing likely will involve checking your baby’s blood, urine, and a small sample of skin or muscle tissue for signs of Pompe disease.

High levels of sugars called tetrasaccharides in the urine, high blood levels of the enzyme creatine kinase, or deficient GAA activity in the blood or skin/muscle cells, indicate that your baby may have Pompe disease. Your pediatrician may use genetic testing to confirm the diagnosis.


Last updated: Nov. 3, 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.