The UK NSC recommendation on Maple Syrup Urine Disease
Find general information about population health screening.
Why is screening recommended by UK NSC?
The UK NSC has recommended screening for Maple Syrup Urine Disease (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.
More about MSUD
MSUD is a rare amino acid disorder in which a baby or child has a problem breaking down particular amino acids known as 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, a minor illness such as a chest infection or stomach upset can lead to serious problems.
More information about MSUD can be found on NHS Choices.
Some frequently asked questions were developed following the 2014 expanded newborn blood spot policy recommendations and can be found here.
Screening in the UK
Compare how screening is offered across the UK.
• British Inherited Metabolic Disease Group
The stakeholder groups will be involved when the recommendation is next reviewed. If you think your organisation should be added, please contact us. More information for stakeholders can be found in appendix C of the UK NSC evidence review process.
Recommendation Review History
The policy was first recommended in 2014 following the conclusion of a one year study between 2012 and 2013 that included IVA and four other conditions.
Related documentsBirth Prevalence of Five Inherited Metabolic Diseases (PDF document, 513KB, 06/05/14)
Consultation Responses to the 2014 ENBS Review (PDF document, 1.03MB, 06/05/14)
ENBS Health Economics Report (PDF document, 561KB, 06/05/14)
FAQs for the ENBS Review (PDF document, 117KB, 06/05/14)
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