Biochem

Front 1

defect in xeroderma pigmentosum

Back 1

defective excision repait

Front 2

Km
what does it equal
if high what does that say about the affinity of

Back 2

the amount of substrate needed to get to 1/2 vmax
high Km = low affinity

Front 3

what organelle adds mannose-6-phosphate to lysosome proteins

Back 3

golgi apparatus

Front 4

failure of addition of mannose-6P to lysosome proteins causes what disease

Back 4

I- cell disease
enzymes secreted outside the cell instead of going to lysosome
characterized by coarse facial features and restricted joint movement

Front 5

cause of chediak higashi syndrome?

Back 5

microtubule polymerization defect, resulting in decreased phagocytosis

Front 6

kartagener's syndrome is due to what?

Back 6

dynein arm defect, resulting in immotile cilia

Front 7

drugs that effect the Na-K ATPase

Back 7

ouabain - inhibits it by binding to K site
cardiac glycosides (dig) inhibit it causing increased cardiac contractility

Front 8

G protein receptor: H1, alpha1, V1, M1 and M3 (HAVe 1 M&M)
G protein class?
action?

Back 8

Gq
phospholipase C convertes lipids to PIP2
PIP2 makes IP3 which increases Ca (intracellular)
PIP2 also lead to increased DAG and protein kinase C

Front 9

Beta1, B2, D1, H2, V2 mechanism of action

Back 9

Gs protein
increase adenylaye cyclase --> cAMP --> protein kinase A

Front 10

M2, alpha 2, D2 (MAD2s)
action?

Back 10

Gi protein
inhibit adenylate cyclase --> decrease cAMP --> decrease protein kinase A

Front 11

disorder associated with glycolytic enzyme deficiencies

Back 11

hemolytic anemaia. RBCs metabolize glucose anaerobically and thus depend solely on glycolysis

Front 12

pyruvate dehydrogenase complex:
reaction catalyzed?
cofactors needed?

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pyruvate + NAD + CoA --> acetyl CoA + CO2 + NADH
B1,B2, b3, B5, lipoic acid

Front 13

vitamin B5 - pantothenate

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constituent of CoA (a cofactor for acyl transfers) and component for Fatty acid synthase

Front 14

pyruvate dehydrogenase deficiency

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causes backup of pyruvate and alanine --> lactic acidosis
can be seen in alcoholics due to B1 deficiency
findings - neurologic defects

Front 15

cori cycle

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transfers excess reducing equivalents (lactate) from RBCs and muscle to liver, allowing muscle to function anaerobically

Front 16

electron transport inhibitors

Back 16

rotenone, antimycin A, CN-, CO
cause a decrease in proton gradient

Front 17

ATPase inhibitor

Back 17

oligomycin

Front 18

gluconeogenesis irreversible enzymes?

Back 18

pyruvate carboxylase
PEP carboxykinase
fructose-1,6-bisphosphatase
glucose-6-phosphatae
Pathway Produces Fresh Glucose

Front 19

pentose phosphate pathway (HMP shunt) function

Back 19

produces ribose 5-P from G6P for nucleotide synthesis

Front 20

G6P dehydrogenase
deficiency?

Back 20

rate limiting enzyme in HMP shunt (which yields NADPH)
NADPH is necessary to keep glutathion reduced, which in turn detoxifies free radicals and peroxides
deficiency --> decreased NADPH in RBCs leads to hemolytic anemia due to poor RBC defense against oxidizing agents (fava beans, sulfonamides, primaquine)
X-linked recessive

Front 21

essential amino acids

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PriVaTe TIM HALL
phe, val, thr, trp, ile, met, his, arg, leu, lys

arg and his are only required during periods of growth

Front 22

tryptophan derivatives

Back 22

niacin (NAD/NADP), serotonin, melatonin

Front 23

urea cycle

Back 23

occurs in liver
end: arginine + H20 --> urea + ornithine

Front 24

phenylalanin derivatives

Back 24

--> tyrosin (and thyroxine) --> dopa (and melanin) --> dopamine --> NE --> epi

Front 25

glycine derivatives

Back 25

porphyrin --> heme

Front 26

arginine derivatives

Back 26

creatine, urea, nitric oxide

Front 27

glutamate derivates

Back 27

GABA

Front 28

alkopturia
what AA builds up?
sign?
symptoms?

Back 28

congenital deficiency in degradative pathway of tyrosine (tyosine builds u)
black urine upon standing
benign disease - arthralgias

Front 29

albinism
mechanism?

Back 29

deficiency of either tyrosinase (inability to synthesize melanin from tyrosine) or defective tyrosine transporters
lack of melanin increases risk of skin cancer

Front 30

maple syrup urine disease

Back 30

blocked degradation of branched AAs (Ile, leu, Val). causes increase alpha keto acids in blood, esp leu.
severe CNS defects, MR, death
I Love Vermont

Front 31

cystinuria

Back 31

defect of renal tubular AA transporter for Cystine, Ornithine, Lysine and Arginine (COLA)
can lead to precipitation of cystine kidney stones

Front 32

cause of SCIDs

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ADA deficiency
accumulation of adenine (a purine)
prevents DNA synthesis

Front 33

lesch-nyhan syndrome

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LNS - lacks nucleotide salvage
X-linked recessive
findings - retardation, self-mutilation, aggression, hyperuricemia, gout

Front 34

von gierkes disease
missing enzyme?
findings?

Back 34

glycogen storage disorder
G6P phosphatase deficiency
sever hypoglycemia, increase glycogen in liver, hepatomegaly, increased blood lactate

Front 35

Pompe's disease

Back 35

pompe's trashes the pump
cardiomegaly leads to early death

Front 36

Niemann-pick disease

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lysosome storage disorder
progressive neurodegeneration, hepatomegaly, cherry-red spot
deficient in sphingomyelinase

Front 37

Krabbe's disease

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lysosome storage disorder, deficient in beta-galactosidase
findings: peripheral neuropathy, developmental delay, optic atrophy

Front 38

Tay-Sachs

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progressive neurodegneration, lysosomes with onion skin

Front 39

metachromatic leukodystrophy

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central and peripheral demyelination with ataxia, dementia

Front 40

Hurler's syndrome

Back 40

developmental delay, gargoylism, corneal clouding

Front 41

X linked recessive lysosome storage disorders

Back 41

Hunters and Fabrys