The UK NSC recommendation on mucopolysaccharidosis type I

 
Recommendation Systematic population screening programme not recommended
Last review completed January 2016
Next review due in 2018/19
 
Key downloads
 

Find general information about population health screening.

Why is screening not recommended by UK NSC?

  • newborn screening has been suggested as it might find babies with MPS 1 before they become ill. The aim of screening would be to improve the health of the baby and to improve the experience of their families
  • for a screening programme to be recommended there must be evidence that a test can reliably find babies with MPS 1 and that effective treatment leads to better outcomes following screening
  • unfortunately there was not enough evidence on these two points to say screening should be introduced
  • a very small study explored the attitudes of parents towards an early diagnosis. This pointed to broad support; however some parents expressed concerns about the loss of a 'carefree' period in which they could bond with their child. This was a very small study and it was not possible to draw clear conclusions from it

More about MPS1

mucopolysaccharidosis type I (MPS I), also commonly known as Hurler's syndrome, is a rare, inherited condition that is part of a larger family called lysosomal storage disorders. In MPS1 the condition prevents the body's cells breaking down molecules such as proteins, carbohydrates and fats. The right levels of these molecules are essential to the functioning of organs such as the heart, lungs, skin, bones and tissues such as blood vessels and tendons.

In MPS I the unwanted build up of two carbohydrates can cause a wide range of health problems. It can also cause the early death of those affected. The effects of MPS I are not always the same and this has led to MPS1 often being split into two categories; a severe form and an 'attenuated' form, which is slower to develop and is sometimes quite mild.

Stakeholders

British Inherited Metabolic Disease Group
Children Living with Inherited Metabolic Diseases
Clinical Genetics Society
Genetic Alliance UK
Institute of Child Health
MetBio
MPS Society
Royal College of General Practitioners
Royal College of Midwives
Royal College of Paediatrics and Child Health
Save Babies Through Screening Foundation UK
UK Newborn Screening Laboratories Network

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.

Recommendation Review History

The condition is being reviewed for the first time.

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