Pompe disease is a rare (approximately 1 in 40,000 births), inherited condition. It is considered a lysosomal storage disorder because people with Pompe have lysosomes (the recycling center of each cell) that cannot break down certain types of complex sugars. Pompe disease is caused by mutations in a gene that make an enzyme called acid alpha-1, 4-glugosidase (“GAA”) or acid maltase. Normally, the body uses GAA to break down glycogen, a stored form of sugar used for energy. The GAA gene is responsible for making this enzyme. Without the proper function of GAA, glycogen that enters into the lysosome is not broken down, but continues to build up and disrupts the functioning of cells. Excessive amounts of lysosomal glycogen accumulate everywhere in the body, but the cells of the heart and skeletal muscles are the most seriously affected.
The Secretary’s Advisory Committee on Newborn Screening recommended to the Department to add Pompe Disease to the list of congenital disorders for which newborns must be screened, and the Department concurred with the recommendation. It was determined that Pompe Disease met the criteria under s. DHS 115.06 for being added to the list of congenital disorders for which the WSLH must test the blood samples of newborns. Analysis and supporting documents used to determine effect on small business
None, the proposed rule will not have an effect on small businesses.
Effect on small business
The proposed rule will not have an effect on small businesses.
Agency contact person
Tami Horzewski MS, CHES
Newborn Screening Program Coordinator
Bureau of Community Health Promotion, Division of Public Health
Wisconsin Department of Health Services
Statement on quality of agency data
The Department relied on the following information for the rules and analysis: The Centers for Disease Control and Prevention, US Secretary of Health and Human Services, Department’s Advisory Committee on Heritable Disorders in Newborns and Children, and Wisconsin Newborn Screening Program – Condition Nomination Form (the form is found here: https://www.dhs.wisconsin.gov/newbornscreening/process-additions.htm). Place where comments are to be submitted and deadline for submission
RULE TEXT
SECTION 1. DHS 115.04 (17) is created to read:
DHS 115.04 (17) Pompe Disease, ICD-10-CM-E74.02.
SECTION 2. Effective Date. This rule shall take effect on the first day of the month following publication in the Wisconsin Administrative Register, as provided in s. 227.22 (2) (intro.), Stats. Wisconsin Department of Health Services
Dated: __________________________________
Karen Timberlake, Secretary-designee
SEAL: