MedicalTerminology DB

Meaning of PKU: An inherited disorder that causes a build-up of phenylalanine (an amino acid) in the blood.

Definition of PKU

An inherited disorder that causes a build-up of phenylalanine (an amino acid) in the blood. This can cause intellectual disability, behavioral and movement problems, seizures, and delayed development. Using a blood test, PKU can easily be found in newborns, and treatment is a diet low in phenylalanine. Also called phenylketonuria.

Written and maintained by James Murray Last updated July 21, 2026 Educational reference, not medical advice. Read the limitations.

For learning, not diagnosis. This glossary provides general educational information and is not a substitute for advice from a qualified healthcare professional. If you may be experiencing a medical emergency, contact local emergency services.