a leucine, isoleucine and valine free infant formula.a limited daily volume of breastmilk feeds (breast feeds or expressed breast milk) or infant formula.Your baby will be given different feeds to provide all the nutrition they need for growth and development. The aim of the diet is to prevent the build-up of leucine and other harmful substances. The metabolic team will see you regularly throughout your child’s life and your child will remain under their care. provide you with written information and contact details for the metabolic team.teach you how to do home blood tests (which you will need to post to the metabolic laboratory for them to monitor the levels of leucine, isoleucine and valine).a special feed to use during illnesses (called the emergency regimen).explain the special diet, which includes:.explain the condition in detail and answer any questions you might have.Recovery from the initial symptoms is likely to take several days and your baby will remain at the metabolic specialist centre.ĭuring this time, the metabolic team will: If you want to breast feed, you will be encouraged to express breast milk as this can be re-started once your baby’s leucine levels are much lower. These treatments will help your baby recover from the early symptoms. Some babies may also need haemodialysis which filters the blood to remove leucine and other harmful substances. To do this, breast feeds and normal infant formula will be stopped temporarily and your baby will be started on a specialised MSUD infant formula which does not contain leucine, isoleucine or valine. It is very important to bring down the high leucine levels in their blood as quickly as possible. If your baby is very sick, they are likely to need intensive care. 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. The local hospital will start appropriate treatment for MSUD and arrange transfer to the metabolic specialist centre for further management. Many babies with MSUD will already be unwell and may be in hospital before the screening result is reported. 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. A high level of the amino acid leucine suggests your baby may have MSUD. The newborn blood spot screening test measures the amount of some amino acids in the blood. 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’). Screening and diagnosis of MSUD Newborn blood spot (‘heel prick test’) Newborn screening allows the diagnosis of MSUD to be made early which can improve the long-term outcome. If MSUD is not treated promptly, it can lead to long-term health problems including brain damage, severe learning and physical difficulties, and behavioural problems. They can progress to have fits and slip into a coma, which can lead to severe brain damage and can be life-threatening. Leucine and other related substances then build up to high and harmful levels in blood and the brain.īabies with MSUD may present with symptoms of feeding problems, sleepiness and abnormal movements even before the newborn screening result is reported. In MSUD, an enzyme called branched-chain keto-acid dehydrogenase is missing, which leads to problems breaking down three amino acids: leucine, isoleucine and valine. Enzymes, which are chemicals found naturally in our body, then break down the amino acids further so they can be used. When we eat, our body breaks down protein in food into smaller parts called amino acids. Babies with MSUD inherit 2 faulty copies of the gene for MSUD, one from each parent. Maple syrup urine disease, or MSUD, is a rare but treatable inherited metabolic disorder that prevents the normal breakdown of protein. It will help you and your healthcare professionals to talk through the next stages of your baby’s care. 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’). In it, the word ‘we’ refers to the NHS service that provides screening. Public Health England (PHE) created this information on behalf of the NHS.
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