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7 Cards in this Set
- Front
- Back
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Essential amino acids
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Arginine, Histidine, Isoleucine, Leucine, Lysine, Methionine, Phenylalanine, Threonine, Tryptophane and Valine
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Carbamoylphosphate Synthase I
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Utilized in Liver Mt.; deficiency causes hyperammonemia, lehtargy, coma and Reye-like encephalopathy
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Ornithine transcarbamoylase
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Deficiency leads to buildup of Ornithine; used in liver Mt.; predominantly in females and due to recessive allele
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Argininosuccinate synthetase
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Failure of enzyme leads to citulliremia
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Argininosuccinate lyase
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Deficiency leads to Argininosuccinate aciduria and build up of Argininosuccinate and lack of Fumarate; treat with Arg and Ornitine
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Arginase
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Deficiency leads to buildup of Arginine and no Ornithine; presents with spastic quadraiplagia and retardation
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Activation of Urea Cycle
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Increased breakdown of AA increases concentration of Glu in live which activates carbamoyl phophate synthetase I
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