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Last minute biochem

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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