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Last minute biochem
| Question | Answer |
|---|---|
| gap between 1st 2 toes | down syndrome |
| duodenal atresia | down syndrome |
| increased risk of ALL | down syndrome |
| decreased aFP, increased beta HCG, decreased estriol, increased inhibin A | down syndrome |
| increased nuchal translucency | down syndrome (also in turner's) |
| 95% due to meiotic nondisjunction of homologous chromosomes | down syndrome (a/w advanced maternal age) |
| 4% due to robertsonian translocation | down syndrome |
| 1% of cases due to mosaicism | no maternal association - Down mosaicisim |
| rocker bottom feet, small jaw, low set ears, clenched hands, congenital heart disease | edwards trisomy 18 |
| decreased alpha fetoprotein, decreased hCG, decreased estriol, NORMAL inhibin A | trisomy 18 |
| normal aFP, normal bHGC, normal estriol, normal inhibin A | patau's syndrome |
| severe MR, rocker bottom feet, microphthalmia, microcephaly, cleft lip, cleft palate, holoprosencephaly, polydactyly, congenital heart disease | patau's trisomy 13 |
| Kwashiokor | MEAL malnutrition Edema anemia liver (fatty) |
| ubiquitous, high affinity (low Km), low capacity (low vmax), uninduced by insulin | hexokinase |
| liver and beta cells of pancreas, low affinity (high Km), high capacity (high Vmax), induced by insulin | glucokinase |
| feedback inhibited by glucose 6 phosphate | hexokinase |
| no direct feedback inhibition | glucokinase |
| phosphorylates excess glucose to sequester it in liver. Allows liver to serve as a blood glucose "buffer" | glucokinase |
| where is NADPH used? | anabolic processes, respiratory burst, P450, glutathione reductase |
| product of HMP shunt | NADPH |
| citrate shuttle | FA synthesis sytrate = synthesis |
| carnitine shuttle | FA degradation Carnage of fatty acids |
| carnitine deficiency | inability to transport LCFA into the mitchondria -> toxic accumulation |
| carntine deficiecny symptoms | weakness, hypotonia, hypoketotic hypolgycemia |
| acyl coa dehydrogenase deficiecny | increased diacarboxylic acids, increased glucose and ketons |
| 1g protein or carbohydrate = ? kcal? | 4 kcal |
| 1g fat = ? kcal | 9 kcal |
| what ketone is not detected in urine? | beta hydroxybutyrate (favored by high redox state) |
| fed state | glycolysis and aerobic respiration |
| fasting between meals | hepatic glycogenolysis; heaptic gluconeogenesis, adipose release of FFA (minor) |
| starvation days 1-3 blood glucose levels maintain by: | hepatic glycogenolysis; adipose release of FFA; muscle and liver, which shift fuel use from glucose to FFA; hepatic gluconeogenesis from peripheral tissue lactate and alanine, and from adipose glycerol and propionyl coA |
| starvation after day 3 | adipose stores (ketone bodies for brain and heart) |
| 2/3 of plasma cholesterol is esterified by? | lecithin cholesterol acyltransferase (LCAT) |
| pancreatic lipase | degradation of dietary TG in small intestine |
| LPL | degradation of TG circulating in chlomicrons and VLDL |
| hepatic TG lipase | degradation of TG remaining in IDL |
| HSL | degradation of TG stored in adipocytes |
| LCAT | catalyzes esterification of cholesterol |
| cholesterol ester transfer protein (CETP) | mediates transfer of cholesterol esters to other lipoprotein particles |
| apolipoprotein E | mediates remant uptake |
| apo A1 | activates LCAT |
| apoC2 | lipoprotein lipase cofactor |
| apo b48 | mediates chlomicron secretion |
| apoB100 | binds LDL receptor |
| abetalipoproteinemia | can't synthesize lipoproteins because no apob100 and b48. AR |
| biopsy of someone with abetalipoproteinemia | intestinal biopsy shows accumulation within enterocytes due to inability to export absorbed lipid as chylomicrons |
| abetalipoproteinemia symptoms | failure to thrive, steatorrhea, acanthocytosis, ataxia, night blindness |
| LDL | transports cholesterol from liver to tissue |
| HDL | transports cholesterol from peripheral to liver |
| chylomicron | delivers dietary TG to peripheral tissue; dilvers cholesterol to liver in the form on chlylomicron remannts (no TG in it) |
| what secretes chlymicrons? | intestinal epithelial cells |
| VLDL | delivers hepatic TGs to peripheral tissu. secreted by liver |
| IDL | formed in degradation of VLDL by LPL |
| LDL | delivers hepatic cholesterol to peripheral tissues. taken up by target cells via receptor mediated endocytosis |
| HDL | secreted from both liver and intestine |
| type 1 hyperchylomicronemia | increased chylomicrons |
| type 1 hyperchylomicronemia | increased TG and cholesterol |
| LPL deficiency or altered apoliproprotein c2 | type 1 hyperchylomicronemia |
| pancreatitis, hepatosplenomegaly, eruptive/pruitic xanthomas - no increased risk of atherosclerossi | type 1 hyperchlomicronemia |
| AD; absent or decreased LDL receptors | accelerated atherosclerosis, tendon xanthomas, corneal arcus (Type 2) |
| type 4 hypertriglyceridemia - | increased VLDL |
| increased TG | type 4 hyperttriglyceridemia |
| hepatic oveproduction of VLDL, pancreatitis | hypertriglyceridemia type 4 |
Created by:
ilovemusic007
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