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15 Cards in this Set
- Front
- Back
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If there is a mutation in the coding region of a gene what occurs?
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- unstable protein= decreased amount
- stable protein= abnormal protein 1) loss of function 2) gain function (rare) 3) novel property (more rare) |
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IF there is a mutation in the regulatory domain what occurs?
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- protein is normal but it is either always on which leads to an increased amount (gain of function) or is never on which leads to a decrease in amount (loss of function)
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What are the 3 categories of Inborn Errors of Metabolism (how are problems caused)
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1) cellular intoxication by high amounts of normal metabolites or by abnormal metabolites
2) energy deficient 3) mixed types |
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High concentrations of large molecules leads to what types of diseases?
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- storage diseases
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What are teh 5 general concepts of enzymes deficiences/diseases?
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- almost always recessive
- substrate accumulation/product deficiency - diffusible vs macromolecular substrates determines range of effects - loss of multiple enzyme activities - phenotypic homology |
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What are the 4 possible mechanisms that leads to the loss of multiple enzyme activities?
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- several enzymes use the same cofactor
- 2+ enzymes share a common subunit - multiple enzymes processed by the same modifying enzyme - organelle where group of enzymes are found in is defective |
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Briefly describe the 3 different phenotypes of PKU
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- classic: accumulation of PKU causes mental retardation, strict diet is required plus medication
- Benign hyperphenylalaninemias: much lower levels of PKU and low protein diet is usually sufficient - BH4 defect: most dangerous, causes high PKU |
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What age does PKU diet have to begin to ensure no mental defects and when can it be stopped?
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- 1 month
- never |
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What are the 4 therapies/potential therapies for PKU?
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1) Enzyme replacement therapy (bacterial phenylalanine ammonia lyase given orally)
2) transplant normal liver/normal hepatocytes 3) Gene therapy: cDNA with correct gene 4) Tetrahydrobiopterin (KUVAN) dietary supplement increases Phe tolerance in 30% |
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Urea Cycle defects signs and causes
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- ammonium increase due to inability to breakdown protein
- may appear 24-48 hours after birth with lethargy, vomiting, seizures, coma |
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Galactosemia deficiency and symptoms
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- GPUT deficiency so cannot breakdown CHO
- symptoms begin after given lactose - death by 2 weeks w/o treatment, delay can cause mental retardation/speech problems |
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What is a common Fatty Acid Oxidation disorder?
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- MCAD
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MCAD deficiency and symptoms
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- inability to breakdown a certain length of lipids
- vomiting, lethargy, hypotonia, coma when fasting or decrease in CHO - cannot produce ketone bodies which feed the brain when fasting |
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What is an example of organic acid defects?
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- Maple Syrup Urine Disease
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Maple Syrup Urine Disease deficiency and symptoms
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- disorder in branched chain amino acid metabolism so elevated leucine, isoleucine, and valine
- simple infection can lead to organic acidopathy - seizures, cerebral edema, coma, death when don't restrict branched chain amino acids |
