The NHS has made an announcement regarding the implementation of routine screening and treatment for a rare, life-threatening metabolic disorder known as HT1. This disorder, if left untreated, can lead to severe complications such as organ damage and liver failure, potentially necessitating a liver transplant in some cases.
Hereditary Tyrosinaemia Type 1, or HT1, is a genetically inherited disorder that affects a small number of newborns each year in the UK. The screening process for this condition involves a blood test administered on the fifth day after birth, with the blood sample being taken from the baby’s heel.
The purpose of this screening is to detect and treat affected newborns before symptoms manifest, enabling prompt initiation of life-saving drug therapy and the implementation of a restricted diet to mitigate future health issues.
The official GOV.UK website explains that individuals with HT1 have difficulty breaking down protein, specifically an amino acid called tyrosine, due to a genetic mutation. Failure to metabolize tyrosine results in the accumulation of harmful substances in the bloodstream, potentially leading to liver failure, kidney disease, and even liver cancer if untreated.
In response to these risks, the NHS has included HT1 in the NHS Newborn Blood Spot Screening Programme in England, following a recommendation by the UK National Screening Committee. Treatment for newborns identified with HT1 involves the use of Nitisinone medication and a controlled diet low in tyrosine.
As children with HT1 grow, they continue on a regulated low-tyrosine diet overseen by specialized dietitians. This combination of medication and dietary management aims to prevent the development of long-term complications associated with HT1.
Dr. Harrison Carter, NHS Director of Vaccination and Screening, emphasized the importance of early screening for tyrosinaemia in ensuring timely treatment for affected families. He highlighted the significance of this advancement in newborn care, particularly for families at risk of hereditary genetic conditions.
NHS Chief Midwife Kate Brintworth emphasized the value of the blood spot test as a crucial component of early healthcare for newborns. She encouraged expectant mothers and families to engage with their maternity teams to learn more about the screening test and the various conditions it can detect during pregnancy.