Important Update to Hawaii’s Newborn Metabolic Screening Panel
Posted on Jul 27, 2023 in Announcements
The Hawaii Newborn Metabolic Screening Program is pleased to announce the additions of Pompe Disease and Mucopolysaccharidosis Type I (MPS I) to the State of Hawaii’s newborn screening panel as of July 3, 2023.
Pompe Disease and MPS I are currently recommended on the US Department of Health and Human Services Recommended Uniform Screening Panel (RUSP). This past spring, Hawaii’s Newborn Metabolic Screening Advisory Committee recommended the additions of Pompe Disease and MPS I to our State’s newborn screening panel. Pompe Disease and MPS I are lysosomal storage disorders and are caused by enzymes that do not work properly. This affects how certain molecules are broken down in the body for use and if not treated early these disorders can lead to permanent and profound disabilities and death.
Pompe Disease and MPS I newborn screening will be completed alongside the other disorders currently screened for with a heel stick blood spot. No additional blood sample will be needed.