Newborn babies in England will now be routinely screened for a rare genetic condition, NHS England has announced.
Hereditary tyrosinaemia type 1 (HT1) affects around seven UK babies annually, causing long-term health problems if left untreated.
The condition prevents the normal breakdown of protein, leading to a toxic build-up in the blood. This vital screening will be incorporated into the standard blood spot test, taken from a baby's heel five days after birth.
Symptoms can include jaundice, fever, abdominal swelling, bleeding, bruising and failing to gain weight.
If untreated, the condition can lead to severe complications such as organ damage and liver failure.
Dr Harrison Carter, NHS director of vaccination and screening, said: “Being able to screen for tyrosinaemia will help give hundreds of thousands of families extra reassurance and peace of mind – and while rare genetic conditions will be ruled out in most cases, for those families affected it means treatment and care can begin straight away, to improve their baby’s chances of leading a healthy life.
Once screened by the NHS, babies with HT1 can be given medication called Nitisinone, which helps to prevent high levels of tyrosine in the blood.
They will also have a diet of regulated formula or breast milk along with a special milk low in tyrosine.
This combination can stop the long-term complications of HT1 from developing.
Source: The Independent, 14 October 2025
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