Utah newborns now screened for 2 more rare conditions
Salt Lake City—The Utah Newborn Screening Program is now screening newborns for 2 additional disorders—mucopolysaccharidosis type I (MPS I) and Pompe disease (glycogen storage disease type II). The severe form of MPS I and the severe form of Pompe disease are rare genetic conditions which can cause irreversible damage to the brain and other organs if treatment is not started soon after birth.
After July 10, 2023, all newborn screening specimens received by the Utah Public Health Laboratory will be screened for these 2 disorders. Babies with low α-L-iduronidase (IDUA) or acid alpha-glucosidase (GAA) enzyme activity may have 1 of these disorders and more lab tests are needed. Adding these 2 tests brings the total number of disorders Utah’s newborn screening program looks for to 44.
MPS I affects approximately 1 in 100,000 newborns and Pompe disease approximately 1 in 40,000 newborns in the US every year. If babies with these disorders are identified early through screening and are then treated with enzyme replacement therapy or a bone marrow transplant, outcomes are greatly improved.
“Often, disorders, such as Pompe disease or MPS I, are not detected and diagnosed until symptoms develop, which unfortunately is too late to prevent disability or death,” said Kim Hart, Utah Newborn Screening Program Manager. “Newborn screening is critical to the early detection and treatment of disorders to help make sure babies lead fuller and healthier lives.”
Without treatment, infants diagnosed with early onset Pompe disease can die. People with late onset Pompe disease have breathing problems, heart problems, and almost all are plagued with muscle weakness. Most people will have to use oxygen and wheelchairs at some point.
MPS I affects many aspects of a child’s growing body causing physical characteristics that are unique to the condition, like an enlarged head, cloudy eyes, distinct facial features and short stature. The condition also affects internal organs, like the heart and lungs. Your child might have recurrent ear, sinus and pulmonary infections or eventually need breathing assistance or surgery to repair symptomatic damage to their organs. A symptom of Hurler syndrome that sets it apart from other levels of MPS I is early childhood developmental delays and progressive declines in the ability to learn.
Newborn screening is a public health program designed to give all babies born in Utah the chance to live long, healthy lives. Since the development of the first screening test in the 1960s, many more disorders have been shown to benefit from early diagnosis and treatment to minimize or completely prevent disabilities and, in some cases, death, if diagnosed early.
Babies born in Utah have blood collected twice—once at 24–48 hours after birth and again at the 2-week child care appointment, preferably 7–16 days after birth. With one heel prick, your baby’s blood helps doctors diagnose rare genetic, hormone-related, and metabolic conditions that can lead to serious health problems. Screening helps doctors begin early treatment for your baby. Visit https://newbornscreening.health.utah.gov/ to learn more about newborn screening in Utah.
The Utah Newborn Screening Program extends its appreciation to the many partners who worked tirelessly to add MPS I and Pompe disease to the newborn screening panel, especially the volunteers who serve on the Newborn Screening Advisory Committee. The efforts of families, scientists, doctors, and the Utah Legislature were critical in making this life-changing effort possible.