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newborn children England will now be routinely screened for a rare genetic condition NHS England has announced.
Hereditary tyrosinemia type 1 (HT1) affects one in seven children in the UK each year, which can lead to long-term health problems if left untreated.
This condition prevents normal breakdown proteinDue to which toxic substances accumulate in the blood. This important test will be included in the standard blood spot test, which will be taken from the baby’s heel five days after birth.
Typically, protein is broken down into smaller parts called amino acids, which are then broken down further by enzymes and chemicals naturally occurring in the body.
In people with HT1, an enzyme called fumarylacetoacetate hydratase is missing, leading to problems breaking down an amino acid called tyrosine and the formation of a harmful substance called succinylacetone (SUAC).
Symptoms may include jaundice, fever, swollen abdomen, bleeding, bruising, and lack of weight gain.
If left untreated, the condition can lead to serious complications such as organ damage and liver failure.
Dr Harrison Carter, NHS Director of Vaccination and Screening, said: “Being able to screen for tyrosinaemia will provide additional reassurance and peace of mind to hundreds of thousands of families – and while rare genetic conditions will be ruled out in most cases, for those affected families it means treatment and care can start immediately, to improve their child’s chances of living a healthy life.
“This is a really important step forward in the care of newborns and will be important news for families who may be at risk of potentially life-threatening inherited genetic conditions.”
Once checked by the NHS, babies with HT1 may be given a medicine called nitisinone, which helps prevent high levels of tyrosine in the blood.
They will receive a diet of special milk with low amounts of tyrosine as well as regulated formula or breast milk.
This combination may prevent long-term complications of HT1 from developing.
Dulcie-Mae Higgs, 25, from Bridgwater, took her daughter Darla-Mae, now two, to A&E soon after she was born when she noticed her tummy had grown.
However, she was not diagnosed immediately and until Darla-Mae was 10 months old, her parents were told by specialists in Birmingham that their daughter had HT1.
Ms Higgs said: “It was terrible to see our daughter in pain. Her condition was so bad, and not knowing when we were going home or whether she would respond well to the medication was heartbreaking.
“Now Darla-Mae is thriving. She started crawling shortly after coming home, and is now a very happy baby, and looking at her you wouldn’t think she had a rare metabolic genetic disorder
“Ultimately, tyrosinemia testing will save lives. I think it’s very important that the NHS offers it. I also think it will help families feel less alone.
“They will be comforted to know that the condition will be caught immediately if they are planning to have more children in the future.”
Testing for HT1 has been added to the NHS Newborn Blood Spot Screening Program following a recommendation by the UK National Screening Committee.
Kate Brintworth, NHS chief midwife, said: “The arrival of a newborn can be a very exciting and busy time for families, but the blood spot test is an important part of early NHS care and support as it can tell families a lot about their baby’s future health.
“Women and families can find out more about the test from their midwife during their pregnancy, including the different conditions the test screens for, so we would encourage them to talk to their maternity team about this.”