![]() Babies with this condition can have serious health problems soon after birth if they are not diagnosed and treated quickly.įalse-positive newborn screening results for this condition can happen. You should complete any recommended follow-up testing as soon as possible. Your baby may need the following tests after an out-of-range screening result: To learn more about screening results, visit the Blood Spot Screening Results page. It does mean that your baby needs more follow-up testing. ![]() Together, you will discuss next steps and follow-up plans.Īn out-of-range screening result does not mean that your baby definitely has the condition. If your baby’s blood spot screening result for maple syrup urine disease is out-of-range, your baby’s health care provider will contact you. In severe cases, this condition can lead to coma or death if not diagnosed and treated early. Without treatment, toxic levels of branched-chain amino acids and their related substances can lead to the signs and symptoms of the condition. The substances the body cannot remove cause this sweet smell. All forms of this condition can result in sweet-smelling earwax and urine, which is how the condition got its name. The form your baby has depends on how well these enzymes work in their body. There are different types of maple syrup urine disease: classic, intermediate, intermittent, thiamine-response, and unclassified. Leucine, isoleucine, valine, and other related substances then build up in their body and can be toxic. As a result, babies with maple syrup urine disease have trouble breaking down branched-chain amino acids. Either the body does not make enough enzyme or does not produce the enzyme correctly. These enzymes do not work properly in babies with maple syrup urine disease. The branched-chain amino acids are called leucine, isoleucine, and valine. Your body then uses those amino acids to make other proteins that it needs to function.Ĭertain enzymes break down a specific type of amino acid called branched-chain amino acids. Your body breaks down the protein you eat into parts called amino acids. Maple syrup urine disease is an inherited (genetic) condition that prevents the body from processing proteins correctly. Increased leucine, isoleucine, and/or other branched-chain amino acids What is Maple syrup urine disease
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