Newborns in Utah now tested for Hunter Syndrome

SALT LAKE CITY — Shortly after an infant is born, doctors carefully take a blood sample from the baby, using it to test for 45 different genetic conditions.

A new test was added to the list in February, adding additional protection to Utah newborns.

Beginning on Tuesday, the Utah Newborn Screening Program started screening for the rare but serious genetic disorder known as Hunter Syndrome. 

According to the Boston Children’s Hospital, Hunter Syndrome (Mucopolysaccharidosis type II or MPS II) is a genetic condition that typically impacts boys.

The condition is linked to a recessive trait in the X chromosome, one of two sex chromosomes found in every cell. Since male babies only have one X chromosome, if the trait is present, the condition manifests.

Female babies have two X chromosomes. If the trait is present on one chromosome, the other will override the trait and prevent Hunter Syndrome from manifesting.

The hospital explained that “children with the condition will have an abnormal accumulation of complex sugars in their cells, which affects many systems in their bodies.”

Only 1 in 100,000 newborns have the genetic disorder, with Utah doctors expecting to detect a case once every one to two years.

Early detection is key to preventing developmental delays, irreversible organ damage and early death.

Newborns are also screened for conditions including cystic fibrosis.

Previously, parents would have to wait for symptoms before testing for the serious genetic disorder.

“Screening is a simple act that has significant, long-term impacts on the child’s overall health,” said Mary Rindler, Utah Newborn Screening Program Manager.

Infants are typically screened twice: once between 24 and 48 hours after birth and again between seven and 16 days after birth (often at an infant’s two-week follow-up appointment with their pediatrician).

Contributing: Joe Wirthlin

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