Maple Syrup Urine Disease Research Paper

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Maple syrup urine disease is a rare autosomal recessive disorder of branched-chain amino acid metabolism leading to life-threatening cerebral edema, a swelling caused by excessive fluid in the brain and dysmyeination, malformed and defective myelin sheath, in affected individuals. Maple syrup urine disease is associated with a worldwide frequency of about 1 in 180,000 infants. A higher chance in children of Amish, Mennonite, and Jewish descent. The condition gets its name from the distinctive sweet odor that smells like maple syrup or burnt sugar in the urine of affected infants. Maple syrup urine is an inborn error of metabolism caused by a deficient in the branched-chain α-ketoacid dehydrogenase enzyme complex, which leads to elevations

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