Pediatric Pearls. More on the Newborn Metabolic Screen: Phenylketonuria

September 12, 2023

Primer:

“Uria” is a medical term that means the presence (of something) in the urine.

An amino acid is a building block of protein.

In a previous post we reviewed the basics of the newborn metabolic screen. Then we took a look at galactosemia, the one screen that if found to be positive is a contraindication to breastfeeding. The goal of this Pediatric Pearl post is to review phenylketonuria (PKU), the first condition ever screened for as a newborn metabolic screen. Currently all 50 states in the United States screen for PKU.