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English government endorses recommendation to screen newborns for tyrosinaemia

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The English government has endorsed the UK National Screening Committee's (UK NSC’s) recommendation to introduce newborn screening for hereditary tyrosinaemia type 1 (HT1), a rare genetic condition.

See written ministerial statement from Minister of State Andrew Stephenson.

HT1 prevents the body breaking down a substance called tyrosine found in food and affects approximately 7 babies per year in the UK. Untreated, it can lead to severe complications such as liver and kidney damage, and in some cases the need for a liver transplant.

HT1 will be added to the conditions screened for by the NHS Newborn Blood Spot Screening Programme in England. This will potentially find an additional 3 babies a year who can be offered drug treatment and a special diet before they become symptomatic, reducing the chance of liver disease and the need for liver transplantation.

The English government’s endorsement of the UK NSC’s recommendation is part of its commitment to improve the lives of people living with rare diseases, which is set out in the England Rare Diseases Action Plan.

UK NSC chair Professor Sir Mike Richards:

Currently, parents who do not have a known history of this condition only discover their child has the disease when symptoms become evident. By then, treatment is less effective.

Adding tyrosinemia type 1 to the national NHS screening programme in England will create a fairer, faster, and simpler route to diagnosis and treatment.

View the UK NSC’s full recommendation along with the English government’s impact assessment and equality impact assessment of introducing this policy.

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