Newborn babies in England will now be routinely screened for a rare genetic condition, NHS England has announced. This condition will be included in the standard blood test that babies receive on the fifth day after birth, collected from the heel. The screening will focus on Hereditary Tyrosinaemia Type 1 (HT1), a disorder that can lead to serious health issues if left untreated. Below, we explain what this condition is, its symptoms, potential severity, and more.What Is Tyrosinaemia Type 1 (HT1)?Hereditary tyrosinaemia type 1 (HT1) affects about one in every seven UK babies each year and can cause lasting health problems if not treated early. The condition stops the body from properly breaking down protein, causing toxic substances to build up in the blood. This important screening will now form part of the routine blood spot test, taken from a newborn’s heel on the fifth day after birth.Tyrosinaemia Type 1 (HT1) is a rare, serious inherited disorder that affects metabolism. It prevents the body from processing the amino acid tyrosine due to a missing enzyme called fumarylacetoacetate hydrolase (FAH). Without this enzyme, harmful byproducts accumulate in the liver, kidneys, and nervous system, potentially causing severe liver and kidney disease, and increasing the risk of liver cancer if untreated.Tyrosinaemia Type 1 (HT1) Early SignsEarly signs in babies can include poor growth, vomiting, diarrhoea, yellowing of the skin or eyes (jaundice), and an enlarged liver. If left untreated, later complications may involve weakened bones (rickets), neurological problems, and liver cancer.In HT1, the missing enzyme fumarylacetoacetate hydrolase leads to a buildup of a harmful substance called succinylacetone (SUAC), which interferes with the body’s ability to process tyrosine.Dr. Harrison Carter, NHS director of vaccination and screening, said: “Being able to screen for tyrosinaemia gives thousands of families extra reassurance. While most babies will not have a genetic condition, for those who do, early detection means treatment can start immediately, giving the baby a better chance at a healthy life.”Once identified through the NHS screening, babies with HT1 can be treated with a medication called Nitisinone, which helps prevent high levels of tyrosine in the blood.Tyrosinaemia Type 1 (HT1) SymptomsAccording to the National Organization for Rare Disorders, HT1 symptoms in babies include poor growth, jaundice, enlarged liver and spleen, and a distinctive cabbage-like odor. In older children and adults, the condition can cause liver and kidney failure, bone weakening (rickets), bleeding problems, and neurological issues such as seizures or behavioral difficulties.Acute form (infancy)Difficulty gaining weight and growing (failure to thrive)Yellowing of the skin and eyes (jaundice)Enlarged liver and spleenSwollen abdomenIncreased tendency to bleed (for example, nosebleeds)Vomiting and diarrheaFeverChronic form (after 6 months to 2 years)Gradual development of liver and kidney problemsLiver cirrhosis and nodulesSoftening of bones (rickets)Neurological complicationsMild to moderate liver diseaseLater-stage and adult symptomsSevere liver and kidney damage or failureHigher risk of liver cancerNeurological issues such as intellectual disability, seizures, or psychiatric disordersPeripheral neuropathyKidney dysfunction or failureThe HT1 test has been added to the NHS Newborn Blood Spot Screening Programme following a recommendation from the UK National Screening Committee.
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