The NHS has revealed that all newborn babies will undergo standard screening and early treatment for a rare, life-threatening metabolic disorder known as HT1. This condition can lead to severe complications like organ damage and liver failure if left untreated, potentially necessitating a liver transplant in some cases.

Hereditary Tyrosinaemia Type 1 (HT1) is a rare genetic disorder inherited at birth, affecting an estimated seven infants annually in the UK. NHS England has mandated newborns to undergo a blood test on the fifth day after birth, extracted from the baby’s heel, to diagnose and treat the condition before symptoms manifest.

If left undetected through newborn screening, babies with HT1 may exhibit symptoms related to the body’s inability to metabolize protein effectively. This mutation can lead to the accumulation of harmful chemicals in the blood, potentially causing liver failure, kidney disease, and even liver cancer if not addressed promptly.

The inclusion of HT1 in the NHS Newborn Blood Spot Screening Programme in England, following a recommendation by the UK National Screening Committee, allows for early intervention through medication like Nitisinone and a restricted diet low in tyrosine. This treatment regimen, overseen by specialist dietitians, aims to prevent long-term complications associated with HT1 as children grow older.

Dr. Harrison Carter, NHS Director of Vaccination and Screening, emphasized the importance of screening for tyrosinaemia in providing families with reassurance and immediate care for affected infants. NHS Chief Midwife Kate Brintworth highlighted the significance of the blood spot test as a crucial element of early healthcare for newborns, encouraging expectant mothers and families to learn more about it from their healthcare providers during pregnancy for proactive management of potential health risks.