newborn screening programme
Mucopolysaccharidosis type I (MPS I) is a rare genetic condition. This prevents the breakdown of certain sugars in the body. The build-up of such sugars causes problems with children’s physical and mental development. In its worst form, it can lead to organ damage and early death.
MPS I has a severe form called Hurler syndrome when symptoms may often appear at around 6 months of age. Less severe forms of MPS I develop later in childhood, typically between 3 and 10 years of age. A national screening programme would aim to find newborn babies with MPS I before symptoms appear, so they can be treated early. The purpose of this would be to improve the health of affected babies.
UK NSC screening recommendation
The 2019 evidence summary found that there was still not enough evidence to recommend population screening for MPS I. This is because:
- more research on newborn screening tests for MPS I is needed because there is not enough evidence that current tests are sufficiently accurate for use in a national screening programme
- the research evidence is not clear that treatments such as stem cell transplantation or enzyme replacement therapy are more effective when used earlier than they are now without screening.
Supporting documents from the 2020 review
Evidence Summary MPS I (2020)
This document provides the evidence on which the current UK NSC recommendation is based.
UK NSC Coversheet & Consultation Responses MPS I (2020)
This document summarises the review process including the public consultation comments.
Date previous review completed: 2020
Next review estimated to be completed: 2023 to 2024.
To see previous evidence reviews, visit the UK NSC archive.
Organisations interested in MPS I
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
- Genetic Alliance UK
- Institute of Child Health
- 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
- UK Newborn Screening Laboratories Network
If you think your organisation should be added, please contact us.