Newborn Screening: Pompe Disease—Newborn Screening Panel Nomination

Wisconsin health care providers can nominate a condition to add to the Wisconsin newborn screening panel. The panel is part of the Wisconsin Newborn Screening program.

The purpose of this page is to show providers the nomination process for Pompe disease.

What is Pompe disease

Pompe disease is a rare inherited condition, affecting about 1 in 40,000 births. It is labeled as a lysosomal storage disorder. This is because people with Pompe disease have lysosomes (the recycling center of cells) that can’t break down certain types of complex sugars.

Pompe disease is caused by mutations in a gene that makes an enzyme called acid alpha-1, 2-glugosidase (GAA) or acid maltase. Normally, the body uses GAA to break down glycogen, a stored form of sugar used for energy. Without the right amount of GAA, glycogen that enters the lysosome doesn’t break down. Instead, it builds up and disrupts cell function. This happens throughout the body but can really impact heart and skeletal muscles the most.

Nomination process for Pompe disease

The following timeline outlines the newborn screening panel nomination process:

• Aug. 26, 2019—The Wisconsin Newborn Screening program received a nomination to add Pompe disease to the newborn screening panel. (PDF)
• Sept. 6, 2019—The Wisconsin Newborn Screening Metabolic Subcommittee had a meeting where it considered the nomination. It recommended adding Pompe disease to the Wisconsin newborn screening panel. It forwarded this suggestion to the Wisconsin Newborn Screening Umbrella Committee.
• Dec. 6, 2019—The Wisconsin Newborn Screening Umbrella Committee adopted the recommendation. They forwarded it to the Secretary’s Advisory Committee on Newborn Screening.
• March 6, 2020—The Secretary’s Advisory Committee on Newborn Screening considered the nomination. They forwarded a recommendation report (PDF) to the Wisconsin Department of Health Services (DHS) Secretary in support.
• May 2, 2020—The Secretary approved the recommendation to add Pompe disease to the Newborn Screening Panel. View the Pompe response letter. (PDF)

Questions? Contact DHSWICongenitalDisorders@dhs.wisconsin.gov.