Overview
Healthcare providers confirm a diagnosis of phenylketonuria (PKU) shortly after birth as part of routine newborn screening via a blood test. If your baby’s phenylalanine levels in their blood sample are high, your provider will administer additional tests to confirm the diagnosis and the type of PKU, normally with additional blood or urine tests. Since PKU is a genetic condition, a genetic test can pinpoint the mutation responsible for symptoms.
Although the majority of PKU diagnoses occur shortly after a baby is born, providers can diagnose PKU at any age if newborn screenings weren’t completed.
Are there screening tests to diagnose phenylketonuria (PKU)?
A phenylalanine screening test identifies levels of phenylalanine in your blood. Newborns receive this test between 24 to 72 hours after birth as part of the newborn screen. Your healthcare provider will take a sample of blood from your baby’s heel by poking it with a small needle. Only a few drops of blood are necessary for this test.
Symptoms
When to see a doctor
Complications
- High blood pressure.
- Diabetes.
- Heart failure.
- Some types of heart valve disease.
Prevention
- Control high blood pressure, high cholesterol and diabetes.
- Don't smoke or use tobacco.
- Eat a diet that's low in salt and saturated fat.
- Exercise at least 30 minutes a day on most days of the week unless your health care team says not to.
- Get good sleep. Adults should aim for 7 to 9 hours daily.
- Maintain a healthy weight.
- Reduce and manage stress.
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