2-1h_diseases_of_metabolism

2-1h_diseases_of_metabolism - Diseases of metabolism...

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Diseases of metabolism
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QuickTimeª and a decompressor are needed to see this picture. nonketotic hyperglycinemia-a defect in the glycine cleavage system Symptoms-mental retardation, high levels of glycine in blood QuickTimeª and a decompressor are needed to see this picture.
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QuickTimeª and a decompressor are needed to see this picture. Maple syrup urine disease is a defect of branched-chain keto acid dehydrogenase BCKDH Symptoms-urine smells like maple syrup due to accumulation of branched-chain a-ketoacids. Fatal unless diagnosed early. Treatment-diet excluding I, V, L.
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Methylmalonic acidemia results from a defect in methylmalonyl~CoA mutase Symptoms: uncontrollable vomiting, gastric distress, labored breathing, death. The symptoms are observed early in childhood. Treatment: Dietary restriction of isoleucine and valine.
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QuickTimeª and a decompressor are needed to see this picture. Hyperlysinemia and hyperlysinurea result from a defect in a saccharopine dehydrogenase Symptoms include mental retardation saccharopine DH
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This note was uploaded on 02/17/2012 for the course CHEM 212 taught by Professor Staff during the Fall '10 term at Rutgers.

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2-1h_diseases_of_metabolism - Diseases of metabolism...

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