Hereditary Tyrosinemia Type 1

Monday 11th March 2024 Written Statements

[The Minister for Health and Secondary Care (Andrew Stephenson)]

I would like to inform the House that I have accepted the UK National Screening Committee’s recommendation to introduce a new condition, tyrosinemia type 1, to the newborn blood spot screening programme in England.

Hereditary tyrosinemia type 1 is a rare genetic condition that affects approximately seven babies in the UK per year. Left untreated, this condition can lead to severe complications such as liver, kidneys and nervous system damage, and in some cases requires liver transplant. Without treatment, children with tyrosinemia type 1 often do not survive past the age of 10. There is no cure for this condition but treatment can help prolong life.

There is currently an inequitable situation whereby families with a known history of this condition can seek early screening and access treatment before their child shows symptoms, when treatment is most effective, while parents without a known history will only discover their child’s condition when symptoms become evident and when treatment is less effective. Introducing tyrosinemia type 1 to the newborn blood spot screening programme will create a fairer, faster, and simpler route to diagnosis and treatment. NHS England have started the work needed to ensure this programme can be implemented next year.

I would like to take this opportunity to thank the UK National Screening Committee for continuing to provide invaluable expert advice on screening programmes. I would also like to pay tribute to all those who work in delivering high-quality screening across the country. The addition of this new condition will maintain the Government’s commitment to improving equity of access to effective treatments for rare diseases.

[HCWS328]