![]() ![]() ![]() 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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