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
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.
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
- ArchAngel MLD Trust
- British Association of Perinatal Medicine
- British Inherited Metabolic Disease Group
- Clinical Genetics Society
- Faculty of Public Health
- Genetic Alliance UK
- Institute of Child Health
- Metabolic Support UK
- Royal College of General Practitioners
- Royal College of Midwives
- Royal College of Paediatrics and Child Health
- Royal College of Physicians
- Royal College of Physicians and Surgeons of Glasgow
- Royal College of Physicians of Edinburgh
- UK Newborn Screening Laboratories Network
If you think your organisation should be added, please contact us.