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15 Cards in this Set

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If there is a mutation in the coding region of a gene what occurs?
- unstable protein= decreased amount
- stable protein= abnormal protein
1) loss of function
2) gain function (rare)
3) novel property (more rare)
IF there is a mutation in the regulatory domain what occurs?
- 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)
What are the 3 categories of Inborn Errors of Metabolism (how are problems caused)
1) cellular intoxication by high amounts of normal metabolites or by abnormal metabolites
2) energy deficient
3) mixed types
High concentrations of large molecules leads to what types of diseases?
- storage diseases
What are teh 5 general concepts of enzymes deficiences/diseases?
- almost always recessive
- substrate accumulation/product deficiency
- diffusible vs macromolecular substrates determines range of effects
- loss of multiple enzyme activities
- phenotypic homology
What are the 4 possible mechanisms that leads to the loss of multiple enzyme activities?
- 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
Briefly describe the 3 different phenotypes of PKU
- 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
What age does PKU diet have to begin to ensure no mental defects and when can it be stopped?
- 1 month
- never
What are the 4 therapies/potential therapies for PKU?
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%
Urea Cycle defects signs and causes
- ammonium increase due to inability to breakdown protein
- may appear 24-48 hours after birth with lethargy, vomiting, seizures, coma
Galactosemia deficiency and symptoms
- 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
What is a common Fatty Acid Oxidation disorder?
- MCAD
MCAD deficiency and symptoms
- 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
What is an example of organic acid defects?
- Maple Syrup Urine Disease
Maple Syrup Urine Disease deficiency and symptoms
- 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