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10 Cards in this Set
- Front
- Back
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Set 10 Q: This disorder results from mutations in the apolipoprotein E gene, with increased serum triglycerides and cholesterol, leading to an increased likelihood of developing atherosclerosis
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Familial hyperlipidemia type III (dysbetalipoproteinemia) - apo E serves as a recognition facor on cell surface receptors; mutations prevent the reuptake of chylomicron and intermediate-density lipoproteins, resulting in the accumulation of lipids transported by them - Think: E is for entry into the liver
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Set 10 Q: A disorder due to mutations in the lipoprotein lipase gene, with a resultant increase in triglycerides and an increased likelihood of developing atherosclerosis
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Familial hypercholesterolemia type I - lipoprotein lipase is normally attached to vessel walls and liberates triglycerides from VLDL and chylomicrons for use by peripheral cells - LPL is upregulated by gemfibrozil, fenofibrates, clofibrates to increase Triglyceride clearance
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Set 10 Q: One of the most common Mendelian disorders, this disease results from a defect in the cell surface receptor for the LDL receptor
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Familial hypercholesterolemia type II - heterozygotes occur in about 1:500 individuals and present with a double to triple elevation in plasma cholesterol - homozygotes have five to six times normal cholesterol, they may develop CAD and suffer an MI before the age of 20
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Set 10 Q: Results from a defect in transport proteins that carry long-chain fatty acids into the peroxisome to be metabolized
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Adrenoleukodystrophy - this x-linked neurologic disorder results from the accumulation of very-long chain fatty acids in the brain (causing demyelination) and in the adrenal cortex (causing degeneration). Clinical manifestations include psychomotor retardation and seizures
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Set 10 Q: Epithelial transport defect in the reabsorption (in kidneys) of dibasic amino acids
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Cystinuria - failure to resorb cystine results in the accumulation in the urine with the potential for the development of cystine kidney stones - fails to resorb COL
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Set 10 Q: This genetic disorder is characterized by a defect in the absorption of essential neutral amino acids (eg- tryptophan) due to a defect in epithelial transport proteins. Appears as diarrhea, dementia, and dermatitis
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Hartnup disease - because tryptophan is a precursor to Niacin, symptoms of this disease are very similar to those of pellagra - Pathway: Tryptophan- (cofactor B6)-> B3
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Set 10 Q: This condition is due to the inability to convert histidine to urocanate, leading to elevated levels of histidine in the urine, which turns green with the addition of ferric chloride
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Histideinemia - histidase normally converts histidine to urocanate, which is excreted in sweat; the association of this disorder with mental retardation is debatable.
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Set 10 Q: This disorder is most often due to defects in the enzyme cystathionine synthase, with defect in the conversion of serine to form cysteins. Patients may have Marfan habitus but mental retardation is present
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Homocystinuria - manifests itself with lens dislocation (down and in vs Marfans is out and up), mental retardation and skeletal and neurologic abnormalities - Cysteine becomes an essential amino acid. - Pathway: homocysteine- (cofactor B6 and cystathione synthase)-> cystathione--> cystein
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Set 10 Q: This defects results from a deficiency of enzyme homogentisate oxidase, with accumulation of homogentisate, the breakdown product of phenylalanine and tyrosine catabolism
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Alkaptonuria (onchronosis) - large amounts of homogentisic acid accumulate in the urine, which if allowed to stand, undergoes oxidation to a black color; deposition of blue-black pigment in articular cartilage/sclera/helix of ears/tendons/joints results in degenerative arthritis. - benign disease other than arthralgias
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Set 10 Q: This disorder results primarily from defects in the enzyme phenylalanine hydroxylase with failure of the conversion of phenylalanine to tyrosine
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Phenylketonuria - mandatory newborn screening in the united states allows early detection; dietary restriction of phenylalanine prevents the development of mental retardation -tyrosine becomes essential - sx: mental/growth retardation, fair skin/hypopigmentation of eyes and basal ganglia, musty body odor
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