NEWS: Newborn Screening Expanded to Detect Rare, Life-Threatening Metabolic Disorder

Newborn infant's foots and heel prick, PKU phenylketonuria test. Blood draw puncture. Guthrie' test for congenital genetic diseases.

Babies across England will now be routinely tested for Hereditary Tyrosinaemia Type 1 (HT1), a rare condition that can cause liver failure and cancer if left untreated

As reported by the National Health Executive, the NHS has added Hereditary Tyrosinaemia Type 1 (HT1) to its Newborn Blood Spot Screening Programme, meaning all babies in England will now be tested for the condition as part of the standard heel-prick blood test carried out five days after birth.

HT1, which affects around seven newborns each year in the UK, is a rare inherited disorder that stops the body from breaking down the amino acid tyrosine. Without treatment, toxic substances build up in the blood, leading to severe liver and kidney damage and, in some cases, liver cancer.

Detecting the condition early allows babies to begin daily medication with Nitisinone and follow a low-tyrosine diet before symptoms develop – a combination that dramatically improves long-term health outcomes. Infants are given regulated feeds and a special formula, while older children continue to be supported by specialist dietitians.

The move follows a recommendation from the UK National Screening Committee, which emphasised the benefits of early diagnosis in preventing irreversible harm. Health officials said expanding the screening programme demonstrates the NHS’s ongoing commitment to early intervention and personalised care for rare but serious conditions.

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