Newborn screening
All new born babies are routinely screened for phenylketonuria (PKU) by way of a blood test that is usually carried out about a week after a baby is born.
A sample of your baby’s blood will be taken using a heel prick and sent to a laboratory where the levels of phenylalanine will be measured. If the levels are unusually high, a second blood sample will be taken to confirm the diagnosis. See Phenylketonuria - causes for more information about the genetics of PKU.
If the second test confirms high phenylalanine levels, you will be referred to a doctor who specialises in treating cases of PKU. You will also be referred to a dietician who is a healthcare professional with an interest in diet and nutrition. The dietician will be able to advise you about the changes that need to be made to your baby’s diet. See Phenylketonuria - treatment for more information.
Regular blood tests
After a diagnosis of PKU has been confirmed, your child will need to have regular blood tests to measure the levels of phenylalanine in their blood to assess how well they are responding to treatment.
It is recommended that children who are:
- six months of age or younger should have their blood tested once a week
- between six months and four years of age should have their blood tested once every two weeks
- over four years of age and all adults should have their blood tested once a month
Someone with PKU will usually need to continue having regular blood tests throughout their life.
It may be possible for you to receive training so that you can carry out your child’s blood tests, or if you have PKU, so that you can test yourself. This will help to make testing more convenient.
