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168 Cards in this Set

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von gierke:
deficiency
presentation (2)
G6Pase deficiency => hypoglycemia, heptosplenomegally
pompe's:
deficiency
life expectancy
cardiac α 1,4-glucosidase defieciency => DIE early
cori's
enzyme defieciency
biopsy
debranching enzyme deficiency => short branches of glycogen
anderson's:
deficiency
biopsy
branching enzyme deficiency => long chains of glycogen
McArdels
deficiency
presentation
muscle phosphorylase deficiency => muscle cramps with excercise
essential fructosuria?
fructokinase deficiency => excrete fructose (still have hexokinase)
fructosemia
"fuctose intolerance" (aldolase B deficiency) => liver damage
what does galactokinase deficiency cause?
cataracts
what does galactosemia cause? give 3 effects
cataracts, mental retardation, liver damage
what does carnitine shuttle do?
FA transport out of the mitochondria
what lysosomal diseases have a cherry red macula?
tay-sachs, neimann-pick
what lysosomal diseases have a gargoyle face?
gaucher's, hurler's
tay-sachs disease
deficiency
presentation
hexoaminidase A deficiency => blindness, incoordination, dementia
sandhoff's
hexosaminidase A/B deficiency
gaucher's: enzyme deficiency, symptom, pathology
glucocerebrosidase deficiency => wrinkled tissue MP, bone pain
neimann-pick: enzyme deficiency and inclusion bodies
sphingomyelinase deficiency => zebra bodies
fabry's
enzyme deficiency
sign
symptom
mode of inheritance
alpha galactosidase deficiency => corneal clouding, attacks baby's kidney's, x-linked
krabbe's
enzyme deficiency and inclusion body
beta galactosidase deficiency => globoid bodies
metachromatic leukodystrophy
arylsulfatase deficiency => childhood MS
hunter's
enzyme deficiency
prognosis
Iduronidase deficiency, milder form
hurler's: enzyme deficiency
iduronidase deficiency, worse form
lesch-nyhan
enzyme deficiency
give 3 signs
(HGPRT deficiency) => gout, neuropathy, self-mutilation
what do white diaper crystals suggest?
excess orotic acid
what does biotin donate methyl groups for?
carboxylation
what does THF donate methyl groups for?
nucleotides
what does SAM donate methyl groups for?
all other reactions
heterochromatin vs. euchromatin
heterochromatin: tightly coiled
euchromatin: loose (10 nm fibers)
purines
A,G
pyrimidines
C, U, T
silent mutation
changes leave the same aa
point mutation
changes 1 base
transition
changes 1 purine to another purine
transversion
changes 1 purine to pyrimidine
frameshift mutation
insert or delete 1-2 bases
missesnse mutation
mistake aa substitution
nonsense mutation
example
early stop codon
ie. neurofibromatosis I
southern blot
DNA
northern blot
RNA
western blot
protein
essential aa
"PVT TIM HALL"
Phe, Val, Trp, Thr, Ile, Met, His, Arg, Leu, Lys
essential fatty acids
linoleic and linonelic
acidic aa
asp, glu
basic aa
lys, arg
sulfur-containing aa
cys, met
O-bond aa
ser,thr, tyr
N-bond aa
asn, gln
branched aa
leu, ile, val
aromatic aa
phe, tyr, trp
smallest aa
gly
ketogenic aa
lys, leu
glucogenic + ketogenic
PITT
Phe, Iso, Thr, Trp
glucogenic aa
all the rest
what aa does trypsin cut?
basic aa: lys, arg
aa does beta-ME cut
cys, met
what aa acid hydrolysis denature?
asn, gln
chymotrypsin cut
aromatic aa: phe, tyr, trp
what aa turns yellow on nurhydrin reaction?
pro
what does carboxypeptidase cut?
left of any aa on the carboxy terminal
what does aminopeptidase cut?
right of N terminus
what does CNBr cut?
right of Met
what does mercaptoethanol cut?
right of cys and met
what does elastase cut?
right of gly, ala, ser
what does trypsin cut?
basic aa: arg, lys
what does chymotripsin cut?
phe, tyr, trp
what does alpha anti-trypsin do?
inhibits trypsin from getting loose
PKU
no Phe => Tyr (via Phe hydroxylase): nurtrasweet sensitivity, mental retardation, pale, blond hair, blue eyes, musty odor
albinism
No tyr => melanin (via tyrosinase)
maple syrup urine disease
defective metabolism of branched aa (leu, iso, val) => aa leak out
homocystinuria
enzyme deficiency
what aa are missing?
no homocystine => cys: "COLA" stones. Cystine, Ornithine, Lysine, arginine
pellegra
niacin deficiency: dermatitis, diarrhea, dementia, death
hartnup's
no trp => niacin + serotonin
what causes anterior leg bowing?
neonatal syphilis
what causes lateral leg bowing?
rickets
names of B vitamins
vit B1 = thiamine
vit B2 = riboflavin
vit B3 = niacin
vit B4 = lipoic acid
vit B5 = pantothenic acid
vit B6 = pyridoxine
vit B9 = folate
vit B12 = cobalamin
what does vit A do?
night vision, CSF production, PTH
what does vit B1 do?
dehydrogenases, transketolase (PPP) factors
what does vit B2 do?
FAD factor
what does vit B3 do?
NAD factor
what does vit B4 do?
glycolysis no known diseases
what does vit B5 do?
part of acetyl coA, no known diseases
what does vit B6 do?
transaminase cofactor
what does vit B9 do?
nuclear division
what does vit B12 do?
cofactor for HMT and MMM
what does vit C do?
collagen synthesis
what does vit D do?
mineralization of bones, teeth
what does vit k do?
clotting
what does biotin do?
carboxylation
what does calcium do?
neuronal function, atrial depolarization, SM contractility
what does copper do?
collagen synthesis
what does iron do?
Hb function, electron transport
bronze pigmentation
Fe deposit in the skin
bronze cirrhosis
Fe deposits in liver
bronze diabetes
Fe deposit in pancreas
hemosiderosis
Fe overload in bone marrow
hemochromatosis
Fe deposit in organs
what does Mg2+ do?
PTH and kinase cofactor
what does Zn2+ do?
taste buds, hair, sperm function
what does Cr2+ do?
insulin function
what does Mb2+ do?
purine breakdown (xanthine oxidase)
what does Mn2+ do?
glycolysis
what does Se do?
heart function => dilated cardiomyopathy
what does Sn do?
hair
what is kwashiorkor do?
malabsorption, big belly (ascites), protein deficiency
what is marasmus?
starvation, skinny, calorie deficiency
where does the pre label send stuff to?
ER
where does the pro label send stuff to?
golgi
where does the mannose-6-P send stuff to?
lysosome
where does the N-terminal sequence send stuff to?
mitochondria
what are the 4 types of collagen?
"SCAB"
Type I: skin, bone
Type II: connective tissue, aqueous humor
Type III: arteries
Type IV: basement membrane
how does scleroderma present?
tight skin
how does ehlers danlos present?
hyperstrechable skin
how does marfan's present?
joints, hand, wing span vs height, heart (3), eyes
hyperextensible joints, arachnodactyly, wing span, is longer than height, aortic root dilation, aortic aneurysm, mitral valve prolapse, dislocated lens from bottom of eye => look up
how does homocystenuria present?
dislocated lens from top of eye => look down
how does kinky hair disease present?
hair looks like copper wire (cu deficiency)
how does scurvy present?
bleeding gums, bleeding hair follicles
how does takayasu present?
asian female with very weak pulse
how does osteogenesis imperfecta present?
shattered bones, blue sclera
what is the most common intracellular buffer?
protein
what is the most common extracellular buffer?
bicarbonate
zwitterion
a molecule with one negative and one positive end
isoelectronic point
the pH at which there is no net charge
rate limiting enzyme in glycolysis
PFK-1
rate limiting enzyme in gluconeogenesis
pyruvate carboxylase
rate limiting enzyme in HMP shunt
G-6PD
rate limiting enzyme in glycogenesis
glycogen synthase
rate limiting enzyme in glycogenolysis
glycogen phosphorylase
rate limiting enzyme in FA synthesis
AcCoA carboxylase
rate limiting enzyme in beta oxidation
CAT-1
rate limiting enzyme in cholesterol synthesis
HMG CoA reductase
rate limiting enzyme in ketogenesis
HMG CoA synthase
rate limiting enzyme in purine synthesis
PRPP synthase
rate limiting enzyme in pyrimidine synthesis
asp transcarbamoylase
rate limiting enzyme in TCA cycle
isocitrate dehydrogenase
rate limiting enzyme in urea cycle
CPS-1
rate limiting enzyme in heme synthesis
delta-ALA synthase
what are the catabolic pathways that create energy?
"ABC"
acetyl CoA production
beta oxidation
citric acid cycle
what are the anabolic pathways that stores energy?
"EFGH"
ER, Fatty acid synthesis, glycolysis, HMP shunt
what are both anabolic + catabolic pathways that create energy?
"HUG"
Heme, Urea, Gluconeogenesis
isomerase
creates an isomer
epimerase
creates an epimer, which differs around 1 chiral carbon
mutase
moves side chain from one carbon to another (intrachain)
transferase
moves side chain from one substrate to another (intrechain)
kinase
phosporylates using ATP
phosphorylase
phosphorylates using Pi
carboxylase
forms c-c bonds (w/ ATP and biotin)
synthase
consumes 2 substrates, uses ATP
phosphatase
breaks phosphate bonds
hydrolase
breaks a bond with water
lyase
cut c-c bond with ATP
dehydrogenase
removes H with a cofactor
thio do
breaks s bond
diffusion
from high to low concentration
active transport
goes against concentration gradient
zero kinetics
metabolism independent of concentration
1st order kinetics
constant drug percentage metabolism over time, depends on drug concentration
efficacy
when is this lower?
max effect regardless of dose (lower with non-competative antagonist)
what effects efficacy?
Vmax
potency
when is this lower?
amount of drug needed to produce effect (lower with comp antagonist)
what affects potency?
Km
Kd
concentration of drug that binds 50% of receptors
EC50
concentration of drug that produces 50% of maximal response
competitive inhibition
what happens to Vmax and potency
fights for the active site, no change in Vmax, potency decreases
non-competitive inhibition:
what happens to km, efficacy and Vmax
binds a regulatory site, no change in Km, efficacy decreases, decrease Vmax
endothermic rxn
consumes heat
exothermic rxn
gives off heat
peak level
11.4 hrs after dose (too high => decrease dose)
trough level
2 hrs before dose (too high => give less often)
what is t1/2?
half life, the time it takes for the body to use half of the drug ingested