newborn screening programme


Maple syrup urine disease (MSUD) is a rare amino acid disorder. People with MSUD can not break down the amino acids leucine, isoleucine and valine. Most babies with MSUD start to become unwell in the few days after they are born. They have problems such as poor feeding, vomiting and excessive sleepiness. Without treatment, this can lead to a coma and permanent brain damage. In older children minor illnesses, like chest infections, can cause serious problems.

Read more about MSUD on the NHS website.

UK NSC screening recommendation Based on the last UK NSC review of this condition that occurred in May 2014.

Screening for this condition is recommended.

The UK NSC has recommended screening for MSUD within the current Newborn Blood Spot Screening Programme. A one year evaluation of screening in the UK found that screening for this rare inherited amino acid disorder will identify babies early and lead to treatment to help prevent serious problems developing.

Supporting documents from the 2014 review

Screening around the UK

The UK NSC recommends screening for this condition, however this may vary slightly depending on where you are in the UK.

Review cycle

Date previous review completed: 2014

Next review estimated to be completed: 2021 to 2022.

To see previous evidence reviews, visit the UK NSC archive.

Organisations interested in MSUD

These organisations have expressed interest in this recommendation and may submit responses to evidence reviews.

List of organisations

If you think your organisation should be added, please contact us.