The UK NSC recommendation on Tyrosinaemia type 1

 
Recommendation Systematic population screening programme not recommended
Last review completed July 2017
Next review due in 2020/21
 
Key downloads
 

The review, and public consultation, suggested that screening for tyrosinaemia type 1 may be possible. The UK NSC is undertaking further work to explore the issues raised in the consultation. This includes evaluating the accuracy of the test and effectiveness of the treatment.

 

Find general information about population health screening.

Why is screening not recommended by UK NSC?

A systematic population screening programme for newborn screening for TYR1 is not recommended. Further work will be undertaken to address the below areas of uncertainty:

  • The most recent evidence review showed that the screening test finds most babies with TYR1. However, there is not enough information available to know if the test misses affected babies.
  • Treatment with nitisinone results in improved outcomes in TYR1 cases, but there were a number of problems in how the research had been carried out which made it difficult to be sure that there was more benefit from early rather than late treatment.

The UK NSC is continuing to work with stakeholders to understand more about these issues. The Committee will commission a modelling exercise to estimate whether screening is more beneficial than prompt treatment of babies with nitisinone following the start of symptoms.

More about Tyrosinaemia

TYR1 is a very rare, inherited condition which prevents the body breaking down an amino acid called tyrosine from food. This leads to the build-up of toxic substances in the blood. If these are left untreated they can cause damage, particularly to the liver, kidneys and the nervous system.

» Read more about tyrosinaemia at the Climb National Information Centre for Metabolic Diseases website

Stakeholders

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
MetBio
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
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.

Related documents

icon Ethical, Social and Legal Issues with Expanding the Newborn Blood Spot Test (PDF document, 2.13MB, 04/09/17)
icon Review of screening for Tyrosinaemia (2015) (PDF document, 823KB, 04/09/17)

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