![]() ![]() Liver transplantĪ liver transplant is sometimes an option to treat MSUD. Once you are in hospital, your child can be monitored and treated with fluids given directly into a vein (intravenous fluids). Take any information you have been given about MSUD in the event of an emergency in case the doctors have not seen MSUD before. Take your child to hospital if the symptoms of a metabolic crisis develop, if they cannot keep down their emergency diet and supplements, or they have repeated diarrhoea.Ĭontact the metabolic team at the hospital to let them know you're heading straight to the accident and emergency (A&E) department. This may include replacing milk and foods containing protein with special high-sugar drinks and taking amino acid supplements. Your dietitian will provide detailed instructions for a low-protein diet and dietary supplements. It's possible to reduce this risk by changing to an emergency diet while they're ill. This can lead to serious illness and long-term brain damage, and can be life threatening. ![]() If your child becomes ill, they might have an episode of a metabolic crisis. As your child gets older, they'll eventually need to learn how to control their diet and will stay in contact with a dietitian for advice and monitoring. People with MSUD need to follow a low-protein diet for the rest of their life to reduce the risk of a metabolic crisis. This contains all the vitamins, minerals and other amino acids your baby needs. Regular baby formula contains the amino acids that need to be restricted, so a special formula is used instead. Blood tests are needed to monitor these levels.īreast milk and baby formula also need to be monitored and measured before feeding your baby, as advised by your dietitian. This helps to maintain a healthy level of these amino acids in the blood without causing harm. Some children need to take supplements of isoleucine and valine alongside the prescribed diet. Your dietitian will provide detailed advice and guidance, as your baby still needs some of these foods for healthy growth and development. High-protein foods need to be limited, including: The diet is tailored to reduce the amount of amino acids received, especially leucine, valine and isoleucine. The hospital will provide you with emergency treatment instructions to follow if your child is ill, which helps prevent these symptoms developing.Ĭhildren diagnosed with MSUD are first referred to a specialist metabolic dietitian and given a low-protein diet. Some babies with MSUD might not develop symptoms of a metabolic crisis until later in their first year, or later in childhood. Your doctor will give you advice to help you recognise the signs. It's important to get medical help immediately if your baby develops symptoms of a metabolic crisis. ![]() More general symptoms include:īabies with MSUD may also have episodes known as a "metabolic crisis", sometimes early in their life. Symptoms of MSUD usually appear within the first few days or weeks after birth. Some children with untreated MSUD are also at risk of brain damage and developmental delay. Without treatment, severe, life-threatening symptoms can develop, including seizures (fits) or falling into a coma. However, treatment for MSUD must be continued for life. With early diagnosis and the correct treatment, the outcome can be greatly improved. If your baby is diagnosed with MSUD, treatment should be given straight away to reduce the risk of serious complications. This involves pricking your baby's heel to collect drops of blood to test. One of the characteristic symptoms of MSUD is sweet-smelling urine, which gives the condition its name.Īt around 5 days old, babies are offered newborn blood spot screening to check for inherited conditions like MSUD. Very high levels of these amino acids are harmful. Any amino acids that are not needed are usually broken down and removed from the body.īabies with MSUD are unable to break down amino acids called leucine, isoleucine and valine. Normally, our bodies break down protein foods such as meat and fish into amino acids. It means the body cannot process certain amino acids (the "building blocks" of protein), causing a harmful build-up of substances in the blood and urine. Maple syrup urine disease (MSUD) is a rare but serious inherited condition. ![]()
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