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45 Cards in this Set

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  • Back
  • 3rd side (hint)
when does HbA take over
around 6 months
in the urea cycle, what gets transferred into the mt? what does it combine with
ornithine. carbamoyl phosphate.
causes of b3 niacin deficiency
1) dec tryptophan or b3 niacin (intake, carcinoid). 2) Harntup disease: can't reabs trytophan. 3) B6 deficiency. cofactor: tryptophan => niacin
5 to 3' exonuclease activity. what why?
pol 1. excise RNA primer, excise damaged dna.
name 4 heme proteins
myoglobin, hemoglobin, cytochrom oxidase, catalase
what do you need to convert homocystein to methionine
B12 cobalamine and methyl-THF
how do you convert homocysteine to cysteine
cystathionin synthase + B6 pyridoxine. or else homocysteinuria and cysteine is essential
what is NADPH used for (3)
1) anabolism: fa + cholesterol synth. 2) cytochrome p450 3) oxidative burst
why can't RBCs make heme
no mitochondria
what co-enzymes does PDH and aKG requrire
Thiamine B1, FAD (B2 riboflavin), NAD (B3 Niacin), CoA (B5 pantothenate), liopic acid
what happens if you give glucose to a thiamine deficient patient
wernicke encephalopathy: 1) ataxia 2) opthalmoplegia 3) confusion
what is wernicke's encephalopathy
1) ataxia 2) ophthalmoplegia 3) confusion
when does glycogen run out
< 12 hours
3 uses of biotin. and more generally, what does it do
cofactor for carboxylases, carries CO2. 1) pyruvate => oxaloacetate 2) acetyl coA => malonate 3) => proprionyl coA => methylmalonyl coA
biotin defiency when
antibiotic use or *ingestion of raw eggs* (avidin avidly binds biotin, prevents absorption)
where are steroid receports and what are they bound to (when steroid is not present)
heat shock proteins. released upon steroid binding
causes of PKU (2)
1) pheylalanin hydroxylase 2) dec BH4 (e.g. dec dihydropterin reductase)
BH4 is a cofadtor for the production of
1) tyrosine 2) dopa 3) 5HT 4) NO
which monosarcharide is metabolized the fastest in the liver? why?
fructose. it bypases phosphofructokinase
draw out the lysosomal storage disease pathway
fabry's disease. inheritance? enz? accumulation? sx?
XR. alpha galactosidase A. ceramide trihexose. angiokeratomas, peripheral neuropathy, heart/kidney
Gaucher's disease. inheritance? enz? accumulation? sx?
AR. beta-glucocerebrosidease. glucocerebroside. hepatosplenomegaly, aseptic necrosis of femur/bone crisis, gaucher's cells
Niemann-pick disease. inheritance? enz? accumulation? sx?
AR. sphingomyelinase. shingomyelin. cherry red spot (~TS), neurodegn (~TS), hepatosplenomegaly (~GS)
Tay-Sachs. inheritance? enz? accumulation? sx?
AR. hexosaminidase. GM2 ganglioside. 1) neurodegeneration 2) cherry red spot 3) lysozomes w/ onion skin
Krabbe's disease. inheritance? enz? accumulation? sx?
AR. beta-galactosidase. galactocerebroside. 1) neurodeg/dd 2) neripheral neuropathy (~fabry) 3) *optic atrophy*
Metachromic leukodystrophy. inheritance? enz? accumulation? sx?
AR. arylsulfatase. cerebroside sulfate. central + peripheral demyelination => ataxia, dementia
Hurler's syndrome. inheritance? enz? accumulation? sx?
AR. alpha-L-iduronidase. heperan sulfate, dermatan sulfate. 1) dd 2) *gargoylism* 3) *airway obstruction* 4) *corneal clouding* 5) hepatosplenomegaly
Hunter's syndrome. inheritance? enz? accumulation? sx?
XR. iduronate sulfatase. heparan sulfate, dermatan sulfate. Like hurlers, but no corneal clouding, and with aggressive behavior (airway obstruction, gargoylism, hepatosplenomegaly, dd)
von gierke. enz?
glucose 6 phosphatase
Pompe's disease. enz? effect?
lysosomal alpha 1-4 glucosidase. cardiomegaly
Cori's disease. enz?
debranching enzyme (1-6 transferase or 1-4 glucosidase). milder than von gierke
McArdles disease. enz? effect?
muscle glycogen phosphorylase. myoglobinuria, dec lactic acid production, cramps with exercise
I hyperchylomicronemia. which lipoprotein, what's elevated, pathphys
CM. TG + CH. dec LPL or dec CII
what does apo AI do
activates LCAT
what does apo B48 and B100 do
from intestine, liver. receptor for (Binds) LPL
what does apo C do
Coreceptor for LPL
what does apo E do
allow Exit into liver
IIa hypercholesterolemia. which lipoprotein, what's elevated, pathphys
LDL. CH. dec LDL R.
IIb combined hyperlipidemia. which lipoprotein, what's elevated, pathphys
VLDL, LDL. TG + CH. inc VLDL production.
III dysbetalipoproteinemia
VLDL, ILDL. TG + CH. ∆ apoE
IV hypertriglyceridemia
VLDL. TG. overproduction of VLDL
V mixed hypertriglyceridemia
CM, VLDL. TG, CH. inc prod or dec clearance of VLDL + CM
name some autosomal dominant disease
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
name some XR diseases
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
22q11. Cleft palate, Abornmal facies, Thymic aplasia, Cardiac defects, Hypocalcemia