Phenylketonuria (PKU) Screening

Explanation

Phenylketonuria screening is a newborn blood test that checks for an unusual level of phenylalanine, an amino acid.

Why are newborns screened?

Phenylalanine is an amino acid, one of the building blocks of protein. In phenylketonuria, or PKU, the body cannot process it normally and harmful amounts can build up. Newborn screening uses a small blood sample, commonly collected from the heel, to identify babies who may need further assessment.

What does an unusual result mean?

An out-of-range screening result does not prove that a baby has PKU. Prompt follow-up may include another blood test and, depending on the program, urine or genetic testing. Follow-up is important even if the baby looks well, because screening is designed to find the condition before clear symptoms develop.

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