Contents
― Your baby's screening result
― What is MSUD?
― Treatment
― What happens next?
― Your questions answered
― More information and support
― Using your information
The result of your baby’s ‘heel prick’ screening blood test suggests they might have maple syrup urine disease (MSUD). Your baby now needs further tests to check whether he or she has MSUD or not.
This leaflet gives you some information about MSUD and explains what happens next.
Maple syrup urine disease (MSUD) is a rare but treatable inherited disorder
that prevents the normal breakdown of protein. Babies with MSUD inherit two faulty copies of the gene for MSUD, one from each parent.
When we eat, our body breaks down protein in food into smaller parts called amino acids. Special chemicals found naturally in our body, called enzymes, then make changes to the amino acids so our body can use them.
Babies with MSUD do not have one of the enzymes that help break down some of the amino acids. This causes harmful substances to build up in their blood and urine. This can leave a sweet smell in their urine.
Babies with MSUD benefit significantly from early treatment and can live healthy and active lives.
Without early diagnosis and treatment they can develop serious illness and damage to the brain.
MSUD can be treated with a special low-protein diet and dietary supplements. This prevents the build-up of the harmful substances. Your baby may also be given medication.
It is important that your baby is fed regularly and does not go for long periods without eating. They also need to see their specialist metabolic team regularly.
If your baby is unwell in any way it is important to follow medical advice. Babies that become very unwell might need intensive-care treatment including dialysis (where their blood is filtered to remove harmful substances)
You will be given an appointment to see a specialist metabolic team who will:
If MSUD is confirmed, your specialist metabolic team will:
If you are concerned about poor feeding or that your baby is unwell, contact
your specialist metabolic team.
How will I know if my baby is ill and what should I do?
Babies who have MSUD can become poorly within the first few days of life. They might vomit, be sleepy, develop breathing difficulties, have abnormal movements (spasms that cause the head, neck and spine to arch backwards), and become cold. You might also notice a sweet smell in their
urine when you change their nappy.
You should not ignore these symptoms. If left untreated, babies with MSUD can have fits and slip into a coma, which can be life-threatening.
If you are worried that your baby is ill, contact a member of your specialist metabolic team.
If you cannot contact your specialist metabolic team you should take your baby to your local accident and emergency department as soon as possible.
Take any information that you have been given about MSUD to the hospital with you.
For us to contact you as part of the programme,
we will need to handle some of your and your baby’s personal information. If you need more information about this, you can:
We also keep personal details to make sure that the standard of our service is as high as possible. This includes checking your baby’s records if your baby is found to have a condition after having a screening test which showed a ‘not suspected’ result.
We only ever publish information as statistics and we never publish personal details. We pass on
your personal information to health professionals or organisations that need it, including your GP, health visitor and consultant paediatrician. These professionals must protect the personal information in the same way as we do.
All our paper and computer records are stored and processed securely, away from public access.