7848532-Maple-Syrup-Urine-Disease

7848532-Maple-Syrup-Urine-Disease - By NURDAN PEKACAR...

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By NURDAN PEKACAR KELEŞOĞLU
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What is maple syrup urine disease? What genes are related to maple syrup urine disease? How do people inherit maple syrup urine disease? Treatment of maple syrup urine disease
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Maple syrup urine disease (MSUD) results from a deficient enzyme (branched-chain alpha-keto acid dehydrogenase, BCKD) necessary for the breakdown of the amino acids leucine, isoleucine, and valine. Without the BCKD enzyme, these amino acids build up to toxic levels in the body. MSUD derives its name from the sweet, burnt sugar, or maple syrup smell of the urine. The disorder affects the way the body metabolizes (processes) certain components of protein. These components are the three branched- chain amino acids leucine, isoleucine, and valine. These amino acids accumulate in the blood causing a toxic effect that interferes with brain functions. If left untreated, this leads to brain damage and progressive nervous system degeneration.
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Maple syrup urine disease is an inherited disorder in which the body is unable to process certain protein building blocks (amino acids) properly. Beginning in early infancy, this condition is characterized by poor feeding, vomiting, lack of energy (lethargy), seizures, and developmental delay. There are several types of maple syrup urine disease. The
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This note was uploaded on 06/20/2011 for the course BIO 301 taught by Professor Sabinasemiz during the Spring '11 term at American International.

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7848532-Maple-Syrup-Urine-Disease - By NURDAN PEKACAR...

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