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. DietĬhildren diagnosed with MSUD are first referred to a specialist metabolic dietitian and given a low-protein diet. The hospital will provide you with emergency treatment instructions to follow if your child is ill, which helps prevent these symptoms developing. ![]() 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. Mild forms of MSUD may be missed as the branched-chain amino acids may not be increased in the first weeks of life.Maple syrup urine disease (MSUD) is a rare but serious inherited condition.
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