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5 Cards in this Set
- Front
- Back
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many individuals w/ metabolic disease are normal at birth but show symptoms shortly thereafter. Why?
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Mother's metabolism can compensate for the defect
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What ways can metabolic blocks can have phenotypic effects
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accumulation of one or more prescursors may be detrimental. Overuse of an alternative minor pathway may result in the accumulation of toxic intermediates. Deficiency of an important product may occur. Other reactions may be blocked.
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Enzymes: characteristics
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act as biological catalysts, are proteins, convert substrates into products, can cause genetic disease
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Essential amino acids are
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amino acids humans need in their diet
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What phenotype and disease would be produced in the affected individual? If formation of pheny. hydro. mRNA, if exons of pre mRNA fail to splice together and result in enzyme nonfunctional. It produces an accumulation of high levels of phen. and other compounds that cause neuro damage.
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Pheny. is an enzyme used to convert substrate pheny. to tyrosine. Phenotypes are enhanced reflexes, seizures, mental retardation.
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