Newborn babies to be screened for life-threatening metabolic disorder

Newborn babies are to be routinely screened and treated earlier on the NHS for a rare life-threatening metabolic disorder that can result in the need for a liver transplant.

(c) Omar Lopez/Unsplash

(c) Omar Lopez/Unsplash

Hereditary Tyrosinaemia Type 1 (HT1), which is a rare, genetically inherited, disorder has been added to the NHS Newborn Blood Spot Screening Programme in England, following a recommendation by the UK National Screening Committee.

The condition will now be screened for in the blood test babies get on the fifth day after they are born, taken from the heel.

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.'

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