Hereditary tyrosinaemia type 1 (HT1) affects around one in seven babies a year in the UK and can cause long-term health problems if left untreated
Newborns in England will now be routinely screened for a rare genetic disorder that can lead to serious health issues if not treated, according to official announcements. Hereditary tyrosinaemia type 1 (HT1), which affects approximately one in seven babies annually in the UK, hinders the normal breakdown of protein from food, resulting in a toxic accumulation in the blood.
NHS England confirmed that newborns will be screened for HT1 as part of the routine blood test offered five days post-birth, known as the blood spot test. There were around 550,000 live births in the UK in 2024. Typically, proteins are broken down into smaller components called amino acids, which are further broken down by enzymes naturally present in the body. However, people with HT1 lack an enzyme named fumarylacetoacetate hydratase, leading to difficulties in breaking down an amino acid known as tyrosine and an accumulation of a harmful substance called succinylacetone (SUAC). Symptoms may include jaundice, fever, abdominal swelling, bleeding, bruising, and failure to gain weight. If left untreated, the condition could result in 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.
“This is a really vital step forward in care for newborn babies and will be important news for families who might be at risk of potentially life-threatening hereditary genetic conditions.”
Following NHS screening, infants with HT1 can receive a drug called Nitisinone, which assists in preventing elevated tyrosine levels in the bloodstream. They will also follow a controlled diet of regulated formula or breast milk alongside a specialised milk with reduced tyrosine content. This approach can prevent the serious long-term effects of HT1 from occurring.
Dulcie-May Higgs, 25, from Bridgwater, rushed her daughter Darla-May, now two, to A&E shortly after birth when she spotted her swollen tummy. However, she was not diagnosed right away. It was only when Darla-May was 10 months old that Birmingham specialists told her parents she had HT1.
In light of this, Ms Higgs said: “Seeing our daughter in pain was horrible. She was in such a bad way, and to not know when we were going home or if she would react well to the medication was just heartbreaking.
“Now Darla-May is thriving. Not long after coming home she started to crawl, and now she’s a very happy toddler, and to look at her you wouldn’t think she has a rare metabolic genetic disorder Ultimately, screening for tyrosinaemia will save lives. I think it’s so important that the NHS offers it. I also think it will help families feel less alone.
“They’ll be reassured to know that if they’re planning on having more children in future the condition will be caught straight away.” The test for HT1 has been added to the NHS Newborn Blood Spot Screening Programme following a recommendation by the UK National Screening Committee.
NHS chief midwife Kate Brintworth said: “The arrival of a newborn baby can be a very exciting and busy time for families, but the blood spot test is a key part of early NHS care and support because it can tell families so much about their baby’s future health.
“Women and families can find out more about the test from their midwife during their pregnancy, including the different conditions the test is screening for, so we’d encourage them to talk to their maternity team about it.”