The evaluation of phenylketonuria is performed at birth. The physical exam is normal in an infant with phenylketonuria. Testing for phenylketonuria is performed routinely on newborns, so that the illness is detected early.
Tests that are used to evaluate phenylketonuria include:
In high-risk pregnancies, the diagnosis of phenylketonuria can be made during amniocentesis, prior to birth.
Continue to PKU Treatment
- Channon S, German E, Cassina C, Lee P. Executive functioning, memory, and learning in phenylketonuria. Neuropsychology. 2004 Oct;18(4):613-20. 
- Sullivan JE, Chang P. Review: emotional and behavioral functioning in phenylketonuria. J Pediatr Psychol. 1999 Jun;24(3):281-99. 
- Wappner R, Cho S, Kronmal RA, Schuett V, Seashore MR. Management of phenylketonuria for optimal outcome: a review of guidelines for phenylketonuria management and a report of surveys of parents, patients, and clinic directors. Pediatrics. 1999 Dec;104(6):e68.