newborn screening programme

Tyrosinaemia

Tyrosinaemia type 1, or TYR1, is a very rare genetic condition. It prevents the body from breaking down a substance called tyrosine found in food. This leads to the build-up of toxic levels of substances in the blood. If left untreated, TYR1 can damage the liver, kidneys and the nervous system.

UK NSC screening recommendation Based on the last UK NSC review of this condition that occurred in June 2022.

Screening for this condition is recommended.

Screening for this condition is recommended

A modelling study compared newborn screening for tyrosinaemia type 1 with current practice in the UK. 

This estimated the main benefits of screening to be:

  • a reduction in the number of babies with tyrosinaemia type 1 who experience severe liver disease in the early months of life

  • potentially, a reduction the number of babies with tyrosinaemia type 1 who need a liver transplant in later life

The UK NSC considered this topic at two meetings in 2022.

See pages 5 to 13 of November 2022 coversheet (first link below) for summary of additional modelling work carried out after June 2022 meeting.

See pages 9 to 15 of June 2022 coversheet for summary description of the evaluation of the cost effectiveness of newborn screening for TYR1.

See pages 18 to 29 of June 2022 coversheet for consultation responses.

Supporting documents from the 2022 review

Coversheet
This document summarises the review process including the public consultation comments.

Other supporting documents

Supporting documents from the 2017 review

In 2017, the UK NSC did not recommend screening for this condition.

Evidence summary tyrosinaemia (2016)
This document provides the evidence on which the current UK NSC recommendation is based.

UK NSC coversheet and consultation responses Tyrosinaemia (2017)
This document summarises the review process including the public consultation comments.

Screening around the UK

The UK NSC recommends screening for this condition, however this may vary slightly depending on where you are in the UK.

Review cycle

Date previous review completed: 2022

Next review estimated to be completed: 2026 to 2027.

To see previous evidence reviews, visit the UK NSC archive.

Organisations interested in Tyrosinaemia

These organisations have expressed interest in this recommendation and may submit responses to evidence reviews.

List of organisations

If you think your organisation should be added, please contact us.