In May 2013 the Discretionary Advisory Committee on Heritable Disorders in Newborns and Children (DACHDNC) voted to add Pompe disease (acid mattase deficiency, glycogen storage disease type II) Newborn Screening to the Recommended Uniform Screening Panel (RUSP). The final confirmation from the US Secretary of Health and Human Services (HHS) was announced in March 2015. Pompe disease is an inherited condition classified as a lysosomal storage disorder, with severity and age of onset differing depending on the form. The three forms of Pompe disease are classic infantile-onset, non-classic infantile-onset, and late-onset.

NewSTEPs partners with state newborn screening programs, partner organizations, and federal agencies to provide a central location for Pompe disease resources. If you have additional resources that you would like included, please contact NewSTEPs.

Educational Resources

NewSTEPs has compiled educational resources that can be used to support screening efforts in states and regions. For educational resources, pertinent publications, and archived webinars please visit the NewSTEPs resource library and filter for Pompe. The Clinical Laboratory Standards Institute (CLSI) has a standards document regarding newborn screening blood spot screening for Pompe.

Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC) Recommendations