The UK NSC recommendation on Galactosaemia screening in newborns
Find general information about population health screening.
Why is screening not recommended by UK NSC?
The UK NSC does not currently recommend universal screening for Galactosaemia in newborn babies. This is because: -
• Screening and treatment do not prevent the long term problems caused by Galactosaemia.
• Screening tests will identify babies with different forms of the condition who may never experience any symptoms or who may only develop milder symptoms.
• A special diet has been shown to reduce the severity of symptoms in the baby's first month. However the contribution of screening would be limited as some babies who are severely affected would develop symptoms before the screening test result was available. Others with the disease are already identified through tests within the current newborn screening programme.
More about Galactosaemia
Babies with galactosaemia usually present in the first days and weeks of life with feeding difficulties, vomiting, jaundice, failure to thrive, liver and kidney disease due to their inability to convert galactose, a sugar present in milk, into glucose, the sugar used by the body.
• British Inherited Metabolic Disease Group
The stakeholder groups will be involved when the recommendation is next reviewed. If you think your organisation should be added, please contact us. More information for stakeholders can be found in appendix C of the UK NSC evidence review process.
More optionsGo to top