newborn screening programme
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
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.
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
- ArchAngel MLD Trust
- British Association of Perinatal Medicine
- British Inherited Metabolic Disease Group
- Clinical Genetics Society
- Faculty of Public Health
- Galactosaemia Support Group
- Genetic Alliance UK
- Institute of Child Health
- Metabolic Support UK
- Royal College of General Practitioners
- Royal College of Midwives
- Royal College of Paediatrics and Child Health
- Royal College of Physicians
- Royal College of Physicians and Surgeons of Glasgow
- Royal College of Physicians of Edinburgh
- UK Newborn Screening Laboratories Network
If you think your organisation should be added, please contact us.