The UK NSC recommendation on Gaucher disease screening in newborns (currently under review)


This recommendation is currently being reviewed as part of the UK NSC's regular review cycle of all policies.

The review process began in Mar 2018 and is estimated to be completed by Apr 2019.

Recommendation Systematic population screening programme not recommended
Key downloads

Find general information about population health screening.

More about Gaucher disease

Gaucher disease is the most common of a group of conditions called lysosomal storage disorders. It is a rare inherited condition caused by a faulty or missing enzyme used to break down fatty substances from cells. The part of certain cells affected is called the lysosome and the condition leads to the build-up of a fatty substance in cells and organs that become swollen.

The age and severity of symptoms for people with Gaucher disease vary significantly but typical symptoms include bruising, fatigue, low levels of substances needed in the blood (iron and platelets), bone pain and enlarged organs such as the liver and the spleen.

If left untreated the condition can cause multiple problems and in rare, more severe cases can be fatal for newborn babies and infants. There is no cure for the condition but the most common treatment is enzyme replacement therapy and this can often limit the effects of Gaucher disease. 

» For more information on Gaucher Disease visit the Contact a Family website


British Association of Perinatal Medicine
British Inherited Metabolic Disease Group
Faculty of Public Health
Gauchers Association
Genetic Alliance UK
Metabolic Support UK
MPS Society
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
Save Babies Through Screening Foundation UK

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.

Related documents

icon 2014 Review of Gaucher Disease (consultation version) (PDF document, 621KB, 05/08/14)
icon Ethical, Social and Legal Issues with Expanding the Newborn Blood Spot Programme (PDF document, 2.13MB, 21/08/14)

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