Utah Newborn Screening Program Adds Hunter Syndrome

Detected March 17th, 2026

Summary

The Utah Department of Health has added screening for Hunter syndrome (MPS II) to its newborn screening program. This addition aims to detect the rare genetic disorder early, allowing for timely intervention and improved health outcomes for affected infants.

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What changed

The Utah Department of Health, through its Newborn Screening Program, has officially added screening for Hunter syndrome (Mucopolysaccharidosis II or MPS II) to its standard panel for all newborns. This rare genetic disorder affects approximately 1 in 100,000 to 170,000 U.S. newborns annually and can lead to severe developmental delays, organ damage, and early death if not diagnosed and treated promptly. The program estimates it will identify one Utah infant with the condition every 1-2 years.

While this notice does not impose new direct compliance obligations on regulated entities beyond participation in the existing screening process, it signifies a substantive expansion of public health monitoring for genetic disorders within Utah. Healthcare providers in Utah should be aware of this expanded screening and its implications for patient diagnosis and treatment planning. The program utilizes a blood sample collected shortly after birth and again between 7-16 days of age. This proactive measure aims to enable life-changing interventions before symptoms manifest, underscoring the critical role of early detection in pediatric healthcare.

What to do next

Review updated newborn screening protocols for Hunter syndrome (MPS II) in Utah.
Ensure awareness among clinical staff regarding the addition of Hunter syndrome screening and its diagnostic implications.
Communicate any relevant updates to patient families regarding newborn screening procedures.

Source document (simplified)

Utah newborns now screened for an additional rare condition at birth.

Salt Lake City—The Utah Newborn Screening Program has started screening for the rare but serious genetic disorder known as Hunter syndrome.

Early diagnosis and treatment of Hunter syndrome (MPS II) is essential to prevent developmental delays, irreversible organ damage, and early death. The rare disorder affects approximately 1 in every 100,000 to 170,000 newborns in the U.S. each year. We estimate that the Utah newborn screening program will help detect this condition in a Utah infant every 1-2 years.

“Newborn screening is a vital component of public health. By identifying treatable conditions before symptoms begin, we can provide life-changing interventions that are critical to an infant’s lifelong health,” said Mary Rindler, Utah Newborn Screening Program Manager. “Including MPS II in newborn screening allows the infant to be diagnosed and start treatment at the most effective time—before symptoms start. Screening is a simple act that has significant, long-term impacts on the child’s overall health.”

The newborn screening program uses a small blood sample to screen every infant born in Utah for disorders. Newborn screening is a critical public health program that allows for the early diagnosis and treatment of various genetic, hormonal, and metabolic conditions, including cystic fibrosis and PKU. In Utah, blood samples are collected and tested twice: first at 24–48 hours after birth, and again between 7-16 days of age (often at an infant’s two-week follow-up appointment with their pediatrician). The newborn screening program in Utah currently tests for 45 conditions.

To learn more visit, https://newbornscreening.utah.gov.

The Utah Newborn Screening Program thanks the families, scientists, physicians, the Utah Legislature, and the Newborn Screening Advisory Committee for their dedicated efforts in adding MPS II to our screening panel.