Term
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Definition
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Term
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Definition
NADPH ox def
no resp burst |
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Term
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Definition
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Term
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Definition
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Term
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Definition
| rotenone, antimycin, cyanide, CO |
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Term
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Definition
dir inh elec trans
no proton gradient |
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Term
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Definition
oligomycin
inn mtATPase-> up proton gradient (stops) but no ATP |
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Term
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Definition
| 2,4DNP: incr perm membrane, dn gradient so ETC works but no ATPase acty |
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Term
| irrev steps in gluconeogen |
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Definition
pyr carb (pyr-oxal) (only mt)
PEP carboxykin (oxal-PEP)
F15bisphoshatase(f16-f6p)
g6phosphatase (g6-glu) |
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Term
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Definition
only mt in gluconeogen
reqs biotin, ATP, act by acCoA |
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Term
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Definition
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Term
| where tissues do gluconeogen? |
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Definition
| liver, kidney, intest epith |
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Term
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Definition
| glu-6-phosphatase def in liver -> hypoglycemia |
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Term
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Definition
g6p-rib5p for nucleotides
and NADPH |
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Term
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Definition
| lactating mam glands, liver, adr cortex (FA & ster synth) |
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Term
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Definition
rate lim enzyme in HMP -> NADPH
NADPH: repl glutathione -> detox rads & perox
G6PDD-> hem anemfactors: fava beans, sulfas, primaquine, antiTBs |
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Term
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Definition
blacks
heinz bodies (precip Hgb in RBCs)
X linked rec |
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Term
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Definition
AR aldolase b def
fru-1-p accums -> hogging phos
inh glycogenolysis & gluconeogenesis |
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Term
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Definition
hypogly, jaundice, cirrh, V
tx: dn fructose & sucrose |
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Term
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Definition
defect in fructokinase
benign, ax
ssx: fructosuria & fructosemia |
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Term
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Definition
abs of gal-1-phos uridyltransferase
AR
dmg by accum toxins (galactitol) |
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Term
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Definition
sx: cataracts, HSM, mental retardn
tx:exclude galactose & lactose fr diet |
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Term
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Definition
| causes galactosemia & galactosuria w. sx |
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Term
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Definition
age dep or hered (blacks, asians)
sx: bloating, cramps, osm D
tx: avoid milk or take lactase pills |
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Term
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Definition
| K: leu, lys g/k: ile, phe, trp g: met, thr, val, arg, his arg & his reqd during growth PVT TIM HALL |
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Term
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Definition
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Term
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Definition
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Term
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Definition
asp & glu -
arg & lys +
his: neutr |
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Term
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Definition
degrades aa into urea
in liver
carbamoyl phos incorp in mt
ornithine + carbamoyl (CO2+NH4) phos -> citrulline
uses asp, creates fumarate |
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Term
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Definition
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Term
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Definition
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Term
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Definition
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Term
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Definition
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Term
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Definition
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Term
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Definition
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Term
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Definition
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Term
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Definition
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Term
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Definition
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Term
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Definition
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Term
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Definition
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Term
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Definition
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Term
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Definition
nl: phe-tyr (noness)
in PKU: dn phe hydroxylase or dn THB cofactor
now tyr is essential & phenylketones buildup
AR |
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Term
|
Definition
mental retardation, growth retardation, fair skin, eczema, musty BO
tx: dn phe and up tyr |
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Term
|
Definition
congen defect of homogentisic acid oxidase in tyr degr pathway
alkapton bodies -> urine black one standing
dark CT
benign or debil arthralgias |
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Term
|
Definition
either: no tyrosinase (cant tyr->melanin)
or
def tyr trans (dn tyr so dn melanin)can be from lack of migr of neural crest cells
up risk skin CA |
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Term
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Definition
| 1. cystathione synth def. Tx: dn met up cys 2.dn affinity of cystathione synth for pyridoxal phos. Tx: up vit B6 3.methionine synthase def excess homocysteine in ur
cys-> ess |
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Term
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Definition
| mental retardation, osteoporosis, tall, kyphosis, lens sublux (dn & in), atherosclerosis |
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Term
| mental retardation, osteoporosis, tall, kyphosis, lens sublux (dn & in), atherosclerosis |
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Definition
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Term
|
Definition
common, inh defect of renal tub aa transporter
cys, ornithine, lysine, arg
->cys kidney stonestx: acetazolamide: alk ur |
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Term
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Definition
blocked degr of branched aas (ile, val, leu) due to dn a ketoacid dehydr
up a ketoacids in blood, esp leu |
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Term
|
Definition
| severe cns defects, mental retardn, and death |
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