Your baby’s screening result – Phenylketonuria (PKU) is suspected

Your baby’s newborn bloodspot test (heel prick test) suggests they may have phenylketonuria (PKU), pronounced as fee-nile-keytone-you-ree-ah.

Your baby will need more tests to confirm whether they have PKU.

What is PKU?

Phenylketonuria (PKU), pronounced as fee-nile-key-tone-you-ree-ah, is a rare but treatable inherited disorder that prevents the normal breakdown of protein.

PKU is a rare but treatable inherited condition.

Babies with PKU do not have enough of an enzyme needed to break down part of the protein found in food. Without this enzyme, certain substances can build up in the body. If left untreated, PKU can lead to long term health problems.

With early diagnosis and treatment, babies with PKU can grow and develop normally, and people with PKU can live healthy, active lives.

What happens next?

A specialist metabolic team will arrange more tests to confirm whether your baby has PKU.

It may take a few days for you to receive the results of these tests. During this time, you can continue to breastfeed or bottle-feed your baby as normal.

If your baby becomes unwell or you are worried they aren’t feeding properly, please get medical help.

If tests confirm your baby has PKU, you will receive further support and care from the specialist team. They will explain the condition in more detail, answer your questions and start treatment quickly.

How you might be feeling:

It’s completely natural to feel worried or unsure when your baby needs further tests. You can find more information and support from the following groups:

Metabolic Support UK