Newborn babies to be screened for rare genetic disorder

Newborn babies will be routinely screened for a rare genetic condition, the NHS England has announced.

Hereditary tyrosinaemia type 1 (HT1) affects around one in seven babies a year in the UK and can cause long-term health problems if left untreated.

The condition prevents the normal breakdown of protein in food, leading to a toxic build-up in the blood.

Newborns in England will be screened for HT1 as part of the blood test offered five days after birth, taken from the heel and also known as the blood spot test.

Usually, protein is broken down into smaller parts called amino acids, which are then broken down further by enzymes, chemicals found naturally in the body.

In people with HT1, an enzyme called fumarylacetoacetate hydratase is missing, which leads to problems breaking down an amino acid called tyrosine and a build-up of a harmful substance called succinylacetone (SUAC).

Symptoms can include jaundice, fever, abdominal swelling, bleeding, bruising and failing to gain weight.

If untreated, the condition can lead to severe 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 help give hundreds of thousands of families extra reassurance and peace of mind – and while rare genetic conditions will be ruled out in most cases, for those families affected it means treatment and care can begin straight away, to improve their baby’s chances of leading a healthy life.

“This is a really vital step forward in care for newborn babies and will be important news for families who might be at risk of potentially life-threatening hereditary genetic conditions.”

Once screened by the NHS, babies with HT1 can be given medication called Nitisinone, which helps to prevent high levels of tyrosine in the blood.

They will also have a diet of regulated formula or breast milk along with a special milk low in tyrosine.

This combination can stop the long-term complications of HT1 from developing.

Dulcie-May Higgs, 25, from Bridgwater, took her daughter Darla-May, now two, to A&E soon after she was born after noticing she had an enlarged stomach.

However, she was not diagnosed straight away and it wasn’t until Darla-May was 10 months old that her parents were told by specialists in Birmingham that their daughter had HT1.

Ms Higgs said: “Seeing our daughter in pain was horrible. She was in such a bad way, and to not know when we were going home or if she would react well to the medication was just heartbreaking.

“Now Darla-May is thriving. Not long after coming home she started to crawl, and now she’s a very happy toddler, and to look at her you wouldn’t think she has a rare metabolic genetic disorder

“Ultimately, screening for tyrosinaemia will save lives. I think it’s so important that the NHS offers it. I also think it will help families feel less alone.

“They’ll be reassured to know that if they’re planning on having more children in future the condition will be caught straight away.”

The test for HT1 has been added to the NHS Newborn Blood Spot Screening Programme following a recommendation by the UK National Screening Committee.

NHS chief midwife Kate Brintworth said: “The arrival of a newborn baby can be a very exciting and busy time for families, but the blood spot test is a key part of early NHS care and support because it can tell families so much 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 is screening for, so we’d encourage them to talk to their maternity team about it.”