A Utah lawmaker, Sen. David Hinkins R-Ferron, is advocating to add pyruvate dehydrogenase complex deficiency PDCD to the state’s newborn screening program.
This proposal comes after a military family shared their experience with the disorder, highlighting the potential for early detection through a simple blood test.
PDCD, a rare and potentially fatal enzyme deficiency affecting carbohydrate metabolism, can lead to severe developmental delays, brain shrinkage, and even death, often before a child reaches their first birthday.
The condition is linked to an abnormality in the PDHA1 gene on the X chromosome, which is why Hinkins believes testing for it in newborns could be a life-saving measure.
He emphasizes the importance of early detection, which could prevent lifelong complications for children who go undiagnosed until later in life.
A 2017 study indicated that 60% of children with PDCD die before their first birthday, and 90% before age four.
Hinkins argues that incorporating a test for PDCD in newborn screening would offer families a chance at early treatment, preventing the disease’s devastating effects.