ELECTIONS, POLITICS, & GOVERNMENT
Utah lawmaker wants to add PDCD test to newborn screening program
Jan 16, 2025, 5:16 PM | Updated: 5:35 pm
FILE: A 1-day-old baby boy's heel is pricked for blood during a newborn screening in Washington state. A Utah lawmaker wants to add a test for PDCD to the state's newborn screening program. (J. Scott Applewhite, Associated Press)
(J. Scott Applewhite, Associated Press)
SALT LAKE CITY — A Utah lawmaker wants to add another test to the state’s newborn screening program.
A military family reached out to Sen. David Hinkins, R-Ferron, about their experience with pyruvate dehydrogenase complex deficiency or PDCD. Now, he’d like to add PDCD to the list of more than 40 disorders that infants are screened for in this state.
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“There’s a family that has a child [with] this disease. If they’d had a blood test on it when it was a baby, they would have been able to treat the baby,” Hinkins said.
“But they didn’t know it until she got older, so therefore she’s going to have issues for the rest of her life.”
What is PDCD?
The National Organization for Rare Disorders defines PDCD as an enzyme deficiency that affects carbohydrate metabolism. If symptoms appear prenatally or in infancy, NORD said the child can die in early childhood.
And PDCD can be deadly. The disease causes lower energy levels, developmental delays, and could lead the brain to shrink.
NORD also reports that most people with PDCD have “an abnormality in the PDHA1 gene located on the X chromosome.” That’s the reason Sen. Hinkins wants to add PDCD to newborn screening.
“When they send it to a lab they’ll check for the DNA. They can do that now, so, why not, why don’t we do it?” he said.
“If we can catch it … when they’re little like that, because that’s pretty traumatic to a family when they think that their child might have complications the rest of his life, that’s kind of a big deal,” Hinkins said.
A 2017 Science Direct Study found 60% of kids with the disease die before their first birthday. The same study found that 90% of kids with PCDC die before their fourth birthday.
