"England's NHS Launches Newborn Screening for Rare Genetic Disorder"

Englands National Health Service will implement routine screening for hereditary tyrosinaemia type 1, a serious genetic disorder affecting newborns, to prevent potential long-term health issues.

• Hereditary tyrosinaemia type 1 (HT1), a genetic disorder, affects approximately one in seven babies born annually in the UK, necessitating early detection.
• The screening process involves a blood test taken from the heel of newborns five days post-birth, which checks for the enzyme necessary to break down the amino acid tyrosine.
• If untreated, HT1 can lead to toxicity in the blood due to the accumulation of protein breakdown products, resulting in severe health complications.