maple syrup urine disease symptoms in newborn

Maple syrup urine disease symptoms in newborn how to#

It is a hereditary disease that is caused by a missing enzyme needed to metabolise the branched-chain amino acids (leucine, isoleucine, and valine) found in protein. Maple syrup urine disease is an amino acid disorder. These professionals must protect the personal information in the same way as we do.Īll our paper and computer records are stored and processed securely, away from public access.Maple syrup urine disease (MSUD) Alternative namesīranched-chain ketoacid decarboxylase (BCKD) deficiency Your personal information to health professionals or organisations that need it, including your GP, health visitor and consultant paediatrician. We only ever publish information as statistics and we never publish personal details. 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 also keep personal details to make sure that the standard of our service is as high as possible. If you need more information about this, you can: We will need to handle some of your and your baby’s personal information. Metabolic Support UK (The National Information Centre for Metabolic Diseases) provides information and support for people with HCU and their families.įor us to contact you as part of the programme,.Take any information that you have been given about MSUD to the hospital with you. If you cannot contact your specialist metabolic team you should take your baby to your local accident and emergency department as soon as possible. If you are worried that your baby is ill, contact a member of your specialist metabolic team. If left untreated, babies with MSUD can have fits and slip into a coma, which can be life-threatening. You might also notice a sweet smell in their 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. How will I know if my baby is ill and what should I do?īabies who have MSUD can become poorly within the first few days of life. If you are concerned about poor feeding or that your baby is unwell, contact arrange a follow-up appointment to discuss the test results.answer any questions you might have, and.give you written information about MSUD for you to share with your.explain what to do if your baby is not feeding well.

Maple syrup urine disease symptoms in newborn how to#

explain how to use an emergency feed during illness.

give you any special dietary supplements and medications your baby will.

explain how to give your baby the special low-protein diet (if your baby is breastfed, you can continue breastfeeding).

If MSUD is confirmed, your specialist metabolic team will:

explain how these tests can confirm if your baby has MSUD.arrange blood and urine tests for your baby, and.discuss the screening test result with you.You will be given an appointment to see a specialist metabolic team who will: Babies that become very unwell might need intensive-care treatment including dialysis (where their blood is filtered to remove harmful substances) If your baby is unwell in any way it is important to follow medical advice. They also need to see their specialist metabolic team regularly. It is important that your baby is fed regularly and does not go for long periods without eating.

This prevents the build-up of the harmful substances. MSUD can be treated with a special low-protein diet and dietary supplements. Without early diagnosis and treatment they can develop serious illness and damage to the brain. This can leave a sweet smell in their urine.īabies with MSUD benefit significantly from early treatment and can live healthy and active lives. This causes harmful substances to build up in their blood and urine. Special chemicals found naturally in our body, called enzymes, then make changes to the amino acids so our body can use them.īabies with MSUD do not have one of the enzymes that help break down some of the amino acids. When we eat, our body breaks down protein in food into smaller parts called amino acids. Babies with MSUD inherit two faulty copies of the gene for MSUD, one from each parent. That prevents the normal breakdown of protein. Maple syrup urine disease (MSUD) is a rare but treatable inherited disorder This leaflet gives you some information about MSUD and explains what happens next. Your baby now needs further tests to check whether he or she has MSUD or not. The result of your baby’s ‘heel prick’ screening blood test suggests they might have maple syrup urine disease (MSUD).