For a child to get the disorder, both the mother and father must pass down a mutated PKU gene. Although PKU is rare, all newborns in the United States are required to get a PKU test. The test is easy, ...

It was 50 years ago this month that the Journal of the American Medical Association published a letter from Robert Guthrie, UB professor of pediatrics and microbiology, reporting on a new test for ...

Each year, specimen samples are collected from more than four million infants shortly after birth and sent to public health laboratories across the US. These samples are then tested for between 26 and ...

QUESTION: A friend of mine has a child who has a metabolic disorder that wasn’t diagnosed with routine newborn screening even though screening for the disorder does exist. How could that happen?

Suggested Citation: "1 Introduction." National Academies of Sciences, Engineering, and Medicine. 2025. Newborn Screening in the United States: A Vision for Sustaining and Advancing Excellence.

1 National Newborn Screening & Genetics Resource Center, 1912 W Anderson Lane #210, Austin, TX78757, USA. 2 University of Texas Health Science Center at San Antonio, Department of Pediatrics, 7703 ...

—According to a new systematic review of the literature, despite early and continuous dietary management to lower phenylalanine levels in patients with phenylketonuria (PKU), cognition may still be ...