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45 Cards in this Set
- Front
- Back
- 3rd side (hint)
when does HbA take over
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around 6 months
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None
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in the urea cycle, what gets transferred into the mt? what does it combine with
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ornithine. carbamoyl phosphate.
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causes of b3 niacin deficiency
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1) dec tryptophan or b3 niacin (intake, carcinoid). 2) Harntup disease: can't reabs trytophan. 3) B6 deficiency. cofactor: tryptophan => niacin
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5 to 3' exonuclease activity. what why?
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pol 1. excise RNA primer, excise damaged dna.
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name 4 heme proteins
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myoglobin, hemoglobin, cytochrom oxidase, catalase
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what do you need to convert homocystein to methionine
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B12 cobalamine and methyl-THF
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how do you convert homocysteine to cysteine
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cystathionin synthase + B6 pyridoxine. or else homocysteinuria and cysteine is essential
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what is NADPH used for (3)
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1) anabolism: fa + cholesterol synth. 2) cytochrome p450 3) oxidative burst
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why can't RBCs make heme
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no mitochondria
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what co-enzymes does PDH and aKG requrire
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Thiamine B1, FAD (B2 riboflavin), NAD (B3 Niacin), CoA (B5 pantothenate), liopic acid
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what happens if you give glucose to a thiamine deficient patient
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wernicke encephalopathy: 1) ataxia 2) opthalmoplegia 3) confusion
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what is wernicke's encephalopathy
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1) ataxia 2) ophthalmoplegia 3) confusion
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when does glycogen run out
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< 12 hours
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3 uses of biotin. and more generally, what does it do
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cofactor for carboxylases, carries CO2. 1) pyruvate => oxaloacetate 2) acetyl coA => malonate 3) => proprionyl coA => methylmalonyl coA
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biotin defiency when
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antibiotic use or *ingestion of raw eggs* (avidin avidly binds biotin, prevents absorption)
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where are steroid receports and what are they bound to (when steroid is not present)
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heat shock proteins. released upon steroid binding
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causes of PKU (2)
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1) pheylalanin hydroxylase 2) dec BH4 (e.g. dec dihydropterin reductase)
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None
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BH4 is a cofadtor for the production of
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1) tyrosine 2) dopa 3) 5HT 4) NO
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which monosarcharide is metabolized the fastest in the liver? why?
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fructose. it bypases phosphofructokinase
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draw out the lysosomal storage disease pathway
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fabry's disease. inheritance? enz? accumulation? sx?
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XR. alpha galactosidase A. ceramide trihexose. angiokeratomas, peripheral neuropathy, heart/kidney
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Gaucher's disease. inheritance? enz? accumulation? sx?
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AR. beta-glucocerebrosidease. glucocerebroside. hepatosplenomegaly, aseptic necrosis of femur/bone crisis, gaucher's cells
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Niemann-pick disease. inheritance? enz? accumulation? sx?
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AR. sphingomyelinase. shingomyelin. cherry red spot (~TS), neurodegn (~TS), hepatosplenomegaly (~GS)
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Tay-Sachs. inheritance? enz? accumulation? sx?
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AR. hexosaminidase. GM2 ganglioside. 1) neurodegeneration 2) cherry red spot 3) lysozomes w/ onion skin
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Krabbe's disease. inheritance? enz? accumulation? sx?
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AR. beta-galactosidase. galactocerebroside. 1) neurodeg/dd 2) neripheral neuropathy (~fabry) 3) *optic atrophy*
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Metachromic leukodystrophy. inheritance? enz? accumulation? sx?
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AR. arylsulfatase. cerebroside sulfate. central + peripheral demyelination => ataxia, dementia
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Hurler's syndrome. inheritance? enz? accumulation? sx?
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AR. alpha-L-iduronidase. heperan sulfate, dermatan sulfate. 1) dd 2) *gargoylism* 3) *airway obstruction* 4) *corneal clouding* 5) hepatosplenomegaly
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Hunter's syndrome. inheritance? enz? accumulation? sx?
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XR. iduronate sulfatase. heparan sulfate, dermatan sulfate. Like hurlers, but no corneal clouding, and with aggressive behavior (airway obstruction, gargoylism, hepatosplenomegaly, dd)
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von gierke. enz?
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glucose 6 phosphatase
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Pompe's disease. enz? effect?
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lysosomal alpha 1-4 glucosidase. cardiomegaly
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Cori's disease. enz?
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debranching enzyme (1-6 transferase or 1-4 glucosidase). milder than von gierke
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McArdles disease. enz? effect?
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muscle glycogen phosphorylase. myoglobinuria, dec lactic acid production, cramps with exercise
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I hyperchylomicronemia. which lipoprotein, what's elevated, pathphys
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CM. TG + CH. dec LPL or dec CII
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what does apo AI do
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activates LCAT
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what does apo B48 and B100 do
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from intestine, liver. receptor for (Binds) LPL
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what does apo C do
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Coreceptor for LPL
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what does apo E do
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allow Exit into liver
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IIa hypercholesterolemia. which lipoprotein, what's elevated, pathphys
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LDL. CH. dec LDL R.
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IIb combined hyperlipidemia. which lipoprotein, what's elevated, pathphys
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VLDL, LDL. TG + CH. inc VLDL production.
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III dysbetalipoproteinemia
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VLDL, ILDL. TG + CH. ∆ apoE
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IV hypertriglyceridemia
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VLDL. TG. overproduction of VLDL
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V mixed hypertriglyceridemia
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CM, VLDL. TG, CH. inc prod or dec clearance of VLDL + CM
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name some autosomal dominant disease
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dominate at the HAVeN MATH OFF. HD, APKD, VHL, NF1/2, Marfans, Achondroplasia, Tuberous sclerosis, Hereditary spherocytosis, Osler-Weber-Rendu, Familal adenomatous polyposis/HNPCC, Famial hypercholesterolemia
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name some XR diseases
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HiGH DeW BuFFaLo in the x hairs. Hurler, G6PD, Hemophilia A/B, Duchenne's muscular dystrophy, Wiskott-Aldrich, Bruton's agammaglobulinemia, Fabry's, Fragile X, Lesch-Nyhan
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CATCH-22
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22q11. Cleft palate, Abornmal facies, Thymic aplasia, Cardiac defects, Hypocalcemia
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