Key Summary
- All UK newborns will be screened for rare HT1 disorder
- Early detection enables treatment with Nitisinone and a special diet
- Screening provides families reassurance and guides early care
All newborn babies in the UK will undergo routine screening to ensure safety from Hereditary Tyrosinaemia Type 1 (HT1).
HT1 prevents the body from properly breaking down the amino acid called tyrosine, by controlling the enzymes.
The unbroken tyrosine causes a chemical buildup in the blood, which can potentially cause long term health problems like organ damage and liver failure.
The rare, genetically inherited metabolic disorder affects nearly seven babies a year in the UK.
The blood sample collected from the five-day-old babies’ heels will be screened during the test.
The screening helps with early diagnosis of the disorder before any display of symptoms.
It helps in appropriate decision making such as the administration of life-saving daily drug treatment, restricted diet, etc.
The NHS has added HT1 to the NHS Newborn Blood Spot Screening Programme in England, following a recommendation by the UK National Screening Committee.
Once diagnosed, babies with HT1 are treated with Nitisinone and regulated milk diet, while older children follow a specialised low-tyrosine diet under expert supervision to prevent the long-term impacts of the disorder.
“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,” said Dr Harrison Carter, NHS director of Vaccination and Screening.
Kate Brintworth, NHS chief midwife reminded that, “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.”
She also added, “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.”
