Pregnancy and child

Four rare diseases added to newborn screening

"Newborn babies to be tested for rare diseases," reports BBC News online.

The news is based on an announcement by the UK's National Screening Committee (NSC), which has recommended screening every newborn baby in the UK for four additional genetic disorders as part of the existing newborn screening programme.

This means expanding the NHS Newborn Blood Spot Screening programme to include screening for homocystinuria, maple syrup urine disease, glutaric aciduria type 1 and isovaleric acidaemia.

What conditions are being screened for?


Homocystinuria causes a build-up of the amino acid homocysteine in blood and urine. Left untreated it can cause bone damage, visual problems and brain damage. These symptoms can usually be prevented with prompt diagnosis and treatment.

Maple syrup urine disease

Maple syrup urine disease is a rare disorder affecting around 1 in 185,000 children. It disrupts the normal functioning of amino acids inside the body. Symptoms can range from the relatively mild, such as vomiting, to severe, such as seizures and coma. The condition can normally be controlled through a specialist diet.

Glutaric aciduria type 1

Glutaric aciduria type 1 is a genetic condition associated with amino acids dysfunction. Symptoms include muscle spasms and bleeding inside the eyes and the brain. The condition can be treated using a combination of medication and occupational therapy.

Isovaleric acidaemia

Isovaleric acidaemia is another genetic amino acid disorder. Initial symptoms include sweaty feet, but without treatment the condition can rapidly worsen, leading to seizures and, in some cases, coma. The condition can be successfully treated using a diet plan designed to avoid certain proteins.

How will the testing work?

Babies currently have a heel prick blood test at five to eight days old to test for five conditions where early detection and treatment will improve the long-term outcome for the child:

A pilot programme was run by Sheffield Children's NHS Foundation Trust in which more than 700,000 babies across the country were screened for the new diseases, as well as the five conditions that every newborn baby is currently screened for. 

The Sheffield programme detected 20 children with serious but treatable conditions. Following the results of this pilot study, the NSC was able to recommend extending the newborn screening programme to also screen for these four conditions.

Professor Jim Bonham, national lead for the pilot project and director for newborn screening at Sheffield Children's NHS Foundation Trust, said: "This is fantastic news and everyone who has been involved in the pilot should be really proud of the part they have played in this development.

"As a result of this study, 20 children with serious but treatable disorders were discovered. We are delighted with the results because it shows how we can make an enormous difference for these children and their families, in some cases giving them the gift of life."

NHS Attribution