Phenylketonuria (PKU) Test
How It Feels
Your baby may feel a sting or a pinch with a heel stick.
Usually, there are no problems from a heel stick. A small bruise may develop.
A phenylketonuria (PKU) test is done to check whether a new baby has the enzyme needed to use phenylalanine in his or her body.
If the heel stick screening test shows high phenylalanine levels, a blood sample is taken from your baby's vein to confirm whether he or she has PKU.
What Affects the Test
Reasons the results may not be helpful include:
- Your baby was born early (premature). A baby who weighs less than 5 lb (2.3 kg) may have high levels of phenylalanine but not have phenylketonuria (PKU).
- Your baby has been drinking milk for less than 24 hours. Best results occur after your baby has been breast-feeding or drinking formula for 2 full days.
- Your baby is vomiting or refusing to eat. If the PKU test is done before your baby has eaten for 2 days, the results may not be correct.
- Your baby is getting antibiotics.
What To Think About
- When the PKU test is done within 24 hours of birth, there is a small chance that the test result will not be accurate (false-negative or false-positive). Your baby may need to be tested again. There is less chance of a false result if the test is done between 24 and 72 hours after birth.
- If your baby has PKU, he or she will need regular blood tests to check phenylalanine levels. These tests may occur as often as once a week in your baby's first year and then once or twice a month throughout childhood.
- Blood tests for phenylalanine may be done if you have PKU and plan to become pregnant. If you eat too much protein, you will have high levels of phenylalanine in your blood. If you become pregnant, the high levels of phenylalanine could cause your baby (fetus) to have intellectual disability, even if your baby does not have PKU.
- If your baby has PKU, a special low-protein diet is needed to prevent intellectual disability. Your baby will drink milk substitutes that do not contain phenylalanine. People with PKU need to stay on a low-protein diet for life to prevent problems.