newborn screening programme

Subscribe to alerts on this topic

Galactosaemia

Galactosaemia is a rare genetic condition. A person with this condition cannot break down the sugar present in milk into glucose (the sugar used by the body). Symptoms and complications include difficulties with feeding and speech, and damage to the liver and kidney. Treatment involves avoiding foods that contain galactose for life.

Read more about galactosaemia on the Galactosaemia Support Group website.

UK NSC screening recommendation Based on the last UK NSC review of this condition that occurred in February 2021.

Screening is not currently recommended for this condition.

The UK NSC does not recommend a national screening programme for galactosaemia because:

  • babies show symptoms of galactosaemia at around 7 days of age – quicker than the screening results are available
  • screening tests are not accurate enough and many healthy babies would be misdiagnosed as having the condition
  • it is unclear if early treatment as a result of screening can improve long-term health outcomes.

Supporting documents from the 2021 review

UK NSC galactosaemia review 2020
This document provides the evidence on which the current UK NSC recommendation is based.

UK NSC Cover Sheet Galactosaemia 2020 10 28 REDACTED
This document summarises the review process including the public consultation comments.

Review cycle

Date previous review completed: 2021

Next review estimated to be completed: 2024 to 2025.

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

Organisations interested in Galactosaemia

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.