NHS to screen all newborn babies for life-threatening metabolic disorder
What is Hereditary Tyrosinaemia Type 1 (HT1)?
Hereditary tyrosinaemia type 1 (HT1), is a rare but treatable inherited metabolic disorder that prevents the normal breakdown of protein. Babies with the condition inherit 2 faulty copies of the gene for HT1, one from each parent.
Untreated HT1 can cause long-term health problems, including liver and kidney damage. Newborn screening allows an early diagnosis and treatment which can improve the long-term outcome.
Changes to screenings
The NHS has added HT1 to the NHS Newborn Blood Spot Screening Programme in England, following a recommendation by the UK National Screening Committee. This condition will now be screened for in the blood test that babies get on the fifth day after they are born, taken from the heel.
The test will help to identify and treat babies before symptoms appear, meaning they can get life-saving daily drug treatment sooner and be placed on a restricted diet to make them less likely to face long-term health problems later in life.
Once identified by screening, babies can be placed on a medication called Nitisinone and a special diet of regulated amounts of normal milk feed (breast or formula milk) with a special milk that is low in tyrosine. Older children with HT1 have a special low-tyrosine diet that will be managed by specialist dietitians.
The combination of Nitisinone and tyrosine-restricted diet can prevent the long-term complications of HT1 from developing.
More information and support
Further information can be found from Metabolic Support UK at www.metabolicsupportuk.org
The Metabolic Support UK team can be contacted at:
- Phone: 0845 241 2173 or 0800 652 3181
- Email: contact@metabolicsupportuk.org
The British Inherited Metabolic Diseases Group (BIMDG) website has a booklet about different inherited metabolic disorders at bimdg.org.uk/education/temple
The NHS has further information about newborn blood spot screening.
Visit: www.nhs.uk/baby/newborn-screening/blood-spot-test
