Maple Syrup Urine Disease MSUD USMLE Step 1 Biochemistry Mnemonic

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Maple syrupe urine disease (MSUD) is an autosomal recessive metabolic disorder that leads to the accumulation of branched-chain amino acids. Infants with maple syrup urine disease have urine with a distinctive sweet odor that is reminiscent of maple syrup. This sweet-smelling urine is usually noticed prior to diagnosis and during acute disease. MSUD is caused by a defect in branched-chain ketoacid dehydrogenase, which leads to the accumulation of isoleucine, leucine, and valine. This accumulation of branched-chain amino acids leads to a number of CNS problems: developmental delay, lethargy, and posturing (decorticate or decerebrate). If left untreated, patients usually die in infancy. Since thiamine pyrophosphate (TPP) is a cofactor for branched-chain ketoacid dehydrogenase, some forms of maple syrup urine disease may improve and be treated with thiamine (vitamin B1). • Learn about maple syrup urine disease and other medical school topics with Pixorize's USMLE Step 1 mnemonics. Part of our Metabolic Disorders playlist for the USMLE Step 1 exam. • Subscribe for More: https://bit.ly/2yybxhm • Study Interactive Image: https://pixorize.com/view/4215

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