Maple syrup urine disease (MSUD): summary
Updated 18 November 2021
Applies to England
© Crown copyright 2021
This publication is licensed under the terms of the Open Government Licence v3.0 except where otherwise stated. To view this licence, visit nationalarchives.gov.uk/doc/open-government-licence/version/3 or write to the Information Policy Team, The National Archives, Kew, London TW9 4DU, or email: psi@nationalarchives.gov.uk.
Where we have identified any third party copyright information you will need to obtain permission from the copyright holders concerned.
This publication is available at https://www.gov.uk/government/publications/msud-suspected-description-in-brief/msud-suspected
Public Health England (PHE) created this information on behalf of the NHS. In it, the word ‘we’ refers to the NHS service that provides screening.
This information is for parents if their baby is suspected of having MSUD or has been diagnosed with MSUD following their newborn blood spot screening test (‘heel prick test’). It will help you and your healthcare professionals to talk through the next stages of your baby’s care.
About MSUD
Maple syrup urine disease, or MSUD, is a rare but treatable inherited metabolic disorder that prevents the normal breakdown of protein. Babies with MSUD inherit 2 faulty copies of the gene for MSUD, one from each parent.
Babies with MSUD may present with symptoms of feeding problems, sleepiness and abnormal movements even before the newborn screening result is reported. They can go on to have seizures and slip into a coma, which can be life-threatening.
If MSUD is not treated promptly, it can lead to long-term health problems, including brain damage. Newborn screening allows the diagnosis of MSUD to be made early which can improve the long-term outcome.
Screening and diagnosis of MSUD
Newborn blood spot (‘heel prick test’)
When your baby was about 5 days old, your midwife took some blood from your baby’s heel for their newborn blood spot screening test (the ‘heel prick test’). The newborn blood spot screening test measures the amount of some amino acids in the blood. A high level of the amino acid leucine suggests your baby may have MSUD. This is called a screen positive result.
Diagnostic tests
If your baby has a screen positive result, you will be contacted by the metabolic team and instructed to immediately take your baby to the local hospital for admission, even if they are well.
Many babies with MSUD will already be unwell and may be in hospital before the screening result is reported.
The local hospital will start appropriate treatment for MSUD and arrange transfer to the metabolic specialist centre for further management.
Blood tests will be carried out to confirm if your baby has MSUD, but treatment will be started based on the screening result as the condition can be life-threatening.
Treatment
If your baby does have MSUD, the metabolic team will explain the condition in more detail and answer any questions you might have. They will start your baby on medical treatment and a special diet, and they will arrange regular follow-up appointments. Following the diet and treatment instructions is very important for your baby’s health.
What to do if your baby gets ill
If your baby becomes ill, they might have an episode known as a metabolic crisis (also known as metabolic decompensation). A metabolic crisis can lead to serious illness and long-term brain damage, and can be life threatening.
To help prevent this from happening, you will be taught to give an emergency regimen, which involves specialist feeds and frequent feeding. If your baby becomes very unwell, they might need to be admitted to hospital.
The metabolic team will teach you how to look after your child during illness.
Confidentiality
The NHS screening programmes use personal information from your NHS records to invite you for screening at the right time. Public Health England also uses your information to ensure you receive high quality care and to improve the screening programmes. Find out more about how your information is used and protected, and your options.
More information and support
The metabolic team will be happy to discuss any queries you might have.
For more information, see Maple syrup urine disease (MSUD): further information.
Further information can be found at Metabolic Support UK. The Metabolic Support UK team can be contacted at:
- Phone: 0845 241 2173 or 0800 652 3181
- Email: contact@metabolicsupportuk.org
The British Inherited Metabolic Diseases Group (BIMDG) website has the emergency regimen guidelines and a TEMPLE booklet about MSUD.
NHS.UK has information about MSUD and newborn blood spot screening.