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Urine, sweat, or earwax that smells like maple syrup or burnt sugar. Maple syrup urine disease (MSUD) is a form of metabolic disorder that is passed down through families. The disease is named for the presence of sweet-smelling urine, similar to maple syrup, when the person goes into metabolic crisis. If maple syrup urine disease is suspected based on the physical symptoms, especially the characteristic sweet urine odor, a blood test for amino acids can be done. Routine screening of newborns for MSUD is done in several states within the U.S.. Symptoms of maple syrup urine disease. Maple syrup urine disease occurs in about 1 per 185,000 live births and affects both males and females. Proteins are made up of 20 different types of amino acids. Maple syrup urine disease is a genetic disorder where a person cannot process certain proteins. The most common (classic) form typically will produce symptoms in newborn infants during the first few days of life. Here, the presenting symptoms and clinical course of a case of MSUD with a novel DBT gene … If untreated, MSUD can cause mental retardation, physical disabilities, seizures, coma, and death. About 2,000 people in the United States live with MSUD. NIH Genetics Home Reference. MSUD stands for “maple syrup urine disease.” It is named for the sweet maple syrup smell of the urine in untreated babies. Without medical management, MSUD can lead to a wide range of intellectual and physical disabilities and death. Strauss KA, Puffenberger EG, Morton DH. Individuals with intermittent MSUD, the second most common form of the disorder, develop normally but when ill, show the signs of classic MSUD. Movement disorders in adult surviving patients with maple syrup urine disease. It’s 1 sort of organic acidemia. MSUD is very rare. Successful domino liver transplantation in maple syrup urine disease using a related living donor. Symptoms Of Intermittent Maple Syrup Urine Disease Or Intermittent MSUD– It is another common form of MSUD. In maple syrup urine disease, the three branched-chain amino acids (leucine, isoleucine, and valine) cannot be metabolized (processed), and they build up in the blood, causing problems … The BCKD complex is a multimeric mitochondrial enzyme composed of three catalytic subunits. The main treatment for maple syrup urine disease is the restriction of dietary forms of the three amino acids leucine, isoleucine, and valine. These dietary restrictions must be lifelong. If untreated, respiratory failure (lack of oxygen getting to the blood) may occur. Maple syrup urine disease (MSUD) is an aminoacidopathy secondary to an enzyme defect in the catabolic pathway of the branched-chain amino acids leucine, isoleucine, and valine. It occurs in about 1 of every 185,000 births worldwide. Genetic and Rare Diseases Information Center (GARD) - PO Box 8126, Gaithersburg, MD 20898-8126 - … Symptoms of the classic form of MSUD start in early infancy and include poor feeding, irritability, extra sleepiness, and muscle spasms. She is an associate professor of neurology at Tufts Medical School and medical director of the Lahey Clinic Multiple Sclerosis Center in Lexington, Massachusetts. E3-deficient MSUD This type is a very rare form of Maple Syrup Urine Disease. Symptoms of classic MSUD appear in newborns within 48 hours of birth. Symptoms may be seen a little later after the newborn stage; they may have fairly normal amino acid metabolism. Maple syrup urine disease. It is caused by a defect in 1 of 3 genes. Intermediate MSUD is a more rare form. Here, the presenting symptoms and clinical course of A child is born with MSUD when both parents are carriers of three specific gene mutations (changes) and their child inherits copies of these altered genes – one copy from each parent. doi:10.2147/TACG.S125962, Ⓒ 2021 About, Inc. (Dotdash) — All rights reserved. Symptoms of this disorder include: Coma; Feeding difficulties; Lethargy; Seizures; Urine that smells like maple syrup; Vomiting People with maple syrup urine (MSUD) disease can’t break down three specific amino acids found in protein-containing foods. Maple syrup urine disease is often classified by its pattern of signs and symptoms. For language access assistance, contact the NCATS Public Information Officer. If you have problems viewing PDF files, download the latest version of Adobe Reader. Urine in persons with this condition can smell like maple syrup. Little later after the newborn stage ; they may have fairly normal acid... 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