newborn screening programme


Phenylketonuria (PKU) is an inherited metabolic condition. People with this condition are unable break down a chemical called phenylalanine. This causes a build up of it in the body. This affects the way the brain develops, leading to learning difficulties.

Read more about PKU on the NHS website.

UK NSC screening recommendation Based on the last UK NSC review of this condition that occurred in March 2017.

Screening for this condition is recommended.

Evidence to support continuation or cessation of existing screening programmes should be reviewed regularly. The process for this is currently being revised, which is why this topic does not currently have a review date. The new process will be published in due course. Each programme has an active portfolio of research, evidence and audit to support continual improvement.

Find out more about phenylketonuria screening, as part of the newborn blood spot screening programme in England.

Supporting documents from the 2017 review

UK NSC Pilot Triage PKU (2015)
This document provides the evidence on which the current UK NSC recommendation is based.

Screening around the UK

The UK NSC recommends screening for this condition, however this may vary slightly depending on where you are in the UK.

Review cycle

Date previous review completed: 2017

Next review estimated to be completed: 2021 to 2022.

To see previous evidence reviews, visit the UK NSC archive.

Organisations interested in PKU

These organisations have expressed interest in this recommendation and may submit responses to evidence reviews.

List of organisations

If you think your organisation should be added, please contact us.