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What is (MSUD)??? MSUD is a potentially deadly disorder that affects the way the body breaks down three amino acids: Leucine, Isoleucine, and Valine. Individuals who have the disease produce urine that has a distinctive maple syrup odor. This disease affects many parts of the body, it affects the urine and during time of stress MSUD can damage the brain Symptoms of Maple Syrup Urine Vomiting Disorder: lack of energy (lethargy) developmental delay Avoiding food Urine that smells like maple syrup If untreated, Maple Syrup Urine Disease can lead to seizures, coma, and death. WHY? (MSUD) is a result of mutations in the BCKDHA, BCKDHB, and DBT Mutations in any of these three genes prevent the normal breakdown of Leucine, Isoleucine, and Valine. As a result, these amino acids and their byproducts build up in the body. Because high levels of these substances are toxic to the brain and other organs, a lot of it leads to serious health problems. How can you get it? Defects in any of the six subunits of the BCKD protein complex can cause MSUD. The most common defect is caused by a mutation in a gene on chromosome 19. For a child to get the disease, he/she must inherit a defective copy of the gene from each parent. How is the disorder treated? Treatment involved dietary restriction of the amino acids Leucine, Isoleucine, and Valine. This treatment must begin very early to prevent brain damage. As the person grows to adulthood, he or she must always watch their diet, avoiding high-protein foods such as meat, eggs, and nuts. If levels of the three amino acids still get too high, patients can be treated with an intravenous (given through a vein) solution that helps the body use up excess Leucine, Isoleucine, and Valine for protein synthesis. Gene therapy is also a potential future treatment for patients with MSUD This treatment would involve replacing the mutated gene with a good copy. How is the disorder diagnosed? Genetic counseling is suggested for people who want to have children and who have a family history of maple syrup urine disease. Many states now screen all newborns with blood tests for MSUD. If a screening test shows that your baby may have MSUD, a follow-up blood test for amino acid levels should be done right away to confirm the disease. How common is it? MSUD is an extremely rare disorder; only 1 in 180,000 babies is born with MSUD. But in certain populations, the disease is much more common. In Pennsylvania, as many as 1 out of every 176 babies is born with the disorder. Citations: Bodamer, Olaf A. "Maple Syrup Urine Disease Treatment & Management." Medscape. Ed. Luis O. Rohena. WebMD, 4 Nov. 2014. Web. 6 June 2015. <http://emedicine.medscape.com/article/ 946234treatment>. Haldeman-Englert, Chad. "Maple Syrup Urine Disease." MedlinePlus. N.p., 12 May 2015. Web. 6 June 2015. <http://www.nlm.nih.gov/medlineplus/ency/article/000373.htm>. "Maple Syrup Urine Disease (MSUD)." Learn.Genetics. U of Utah, n.d. 6 June 2015. <http:learn.genetics.utah.edu/content/disorders/singlegene/msud/>. Giorgi, Anna. "Maple Syrup Urine Disease (MSUD)." Healthline. Healthline Networks, n.d. Web.6 June 2015. <http://www.healthline.com/health/maple-syrup-urine-disease#LongTermOutlook9>. Thank You!! By Hussein El Akkad Bio 9