![]() Doctors will closely watch kids who have it. Maple syrup urine disease is treatable when found early. Working with the health care team, including a dietitian who specializes in metabolic disorders like MSUD, can help keep these levels in an acceptable range.ĭoctors may recommend a liver transplant for some children with severe MSUD. Your doctor will do regular checks of the amino acid levels in your child's blood. Following this diet will help prevent the problems linked to MSUD. Some also need to take nutritional supplements. Then, they’ll follow the special diet for the rest of their lives. ![]() Babies with MSUD must be on a special formula as soon as possible. The main treatment for MSUD is a low-protein diet with low levels of the three amino acids. How Is Maple Syrup Urine Disease Treated? The doctor may recommend genetic testing if a baby is born into a family with a history of MSUD. If doctors suspect MSUD, they will check the amino acid levels in the blood and other acids in the urine. In the U.S., doctors do a blood test to check babies for MSUD as part of newborn screening.Ĭhildren with milder forms of MSUD may not be diagnosed until they are older and start to show symptoms. How Is Maple Syrup Urine Disease Diagnosed? In the U.S., MSUD is seen most often in some Mennonite communities. Parents who have one changed gene do not have any symptoms, but can pass the gene to their children. To have MSUD, a child must inherit two changed MSUD genes, one from each parent. MSUD happens when there’s a change (mutation) in the genes that make the enzymes that break down these three amino acids, which are found in food. These amino acids and their byproducts then build up in the blood, damaging the brain and other organs. In MSUD, three amino acids - leucine, isoleucine, and valine - are not broken down. unusual muscle movements and muscle tightnessĪmino acids help kids grow and develop.have a low energy level and be very sleepyĪ baby or child with MSUD also might have:. ![]() Newborns with MSUD have pee or earwax that smells sweet, like maple syrup. What Are the Signs & Symptoms of Maple Syrup Urine Disease? This lets doctors start treatment, usually with a special diet, right away to help prevent problems. Most newborn babies in the United States have their blood tested for MSUD as part of newborn screening. ![]() It’s caused by a defect in the enzymes that break down some amino acids. Maple syrup urine disease (MSUD) is a rare metabolic disorder that some babies are born with. ![]()
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