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. ![]() Maple syrup urine disease (MSUD) is a rare but serious inherited condition.
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