Intermediate
Technical
IVT
phenylketonuria screening
Also written as: PKU — Phenylketonuria
Mandatory newborn screening for inherited metabolic disorder that causes intellectual disability if untreated.
Full Definition
A component of universal newborn screening programs that detects phenylketonuria, an inherited disorder affecting phenylalanine metabolism. Without early detection and dietary intervention, affected children develop severe intellectual disability, seizures, and behavioral problems. Screening occurs via heel stick blood sample, typically between 24-48 hours of life. False positives may occur with early sampling or prematurity, requiring repeat testing and causing parental anxiety that may affect early bonding.
Usage
Usage note: Specify timing of sample collection in documentation
In Context
- "Phenylketonuria screening was positive, requiring immediate dietary consultation." — Newborn screening report
- "Early discharge may compromise phenylketonuria screening accuracy due to timing issues." — Pediatric policy document
Also known as
PKU screening
newborn metabolic screening
Don't confuse with
hypothyroid screening
galactosemia screening