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41 Cards in this Set

  • Front
  • Back
defect in xeroderma pigmentosum
defective excision repait
what does it equal
if high what does that say about the affinity of
the amount of substrate needed to get to 1/2 vmax
high Km = low affinity
what organelle adds mannose-6-phosphate to lysosome proteins
golgi apparatus
failure of addition of mannose-6P to lysosome proteins causes what disease
I- cell disease
enzymes secreted outside the cell instead of going to lysosome
characterized by coarse facial features and restricted joint movement
cause of chediak higashi syndrome?
microtubule polymerization defect, resulting in decreased phagocytosis
kartagener's syndrome is due to what?
dynein arm defect, resulting in immotile cilia
drugs that effect the Na-K ATPase
ouabain - inhibits it by binding to K site
cardiac glycosides (dig) inhibit it causing increased cardiac contractility
G protein receptor: H1, alpha1, V1, M1 and M3 (HAVe 1 M&M)
G protein class?
phospholipase C convertes lipids to PIP2
PIP2 makes IP3 which increases Ca (intracellular)
PIP2 also lead to increased DAG and protein kinase C
Beta1, B2, D1, H2, V2 mechanism of action
Gs protein
increase adenylaye cyclase --> cAMP --> protein kinase A
M2, alpha 2, D2 (MAD2s)
Gi protein
inhibit adenylate cyclase --> decrease cAMP --> decrease protein kinase A
disorder associated with glycolytic enzyme deficiencies
hemolytic anemaia. RBCs metabolize glucose anaerobically and thus depend solely on glycolysis
pyruvate dehydrogenase complex:
reaction catalyzed?
cofactors needed?
pyruvate + NAD + CoA --> acetyl CoA + CO2 + NADH
B1,B2, b3, B5, lipoic acid
vitamin B5 - pantothenate
constituent of CoA (a cofactor for acyl transfers) and component for Fatty acid synthase
pyruvate dehydrogenase deficiency
causes backup of pyruvate and alanine --> lactic acidosis
can be seen in alcoholics due to B1 deficiency
findings - neurologic defects
cori cycle
transfers excess reducing equivalents (lactate) from RBCs and muscle to liver, allowing muscle to function anaerobically
electron transport inhibitors
rotenone, antimycin A, CN-, CO
cause a decrease in proton gradient
ATPase inhibitor
gluconeogenesis irreversible enzymes?
pyruvate carboxylase
PEP carboxykinase
Pathway Produces Fresh Glucose
pentose phosphate pathway (HMP shunt) function
produces ribose 5-P from G6P for nucleotide synthesis
G6P dehydrogenase
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
essential amino acids
phe, val, thr, trp, ile, met, his, arg, leu, lys

arg and his are only required during periods of growth
tryptophan derivatives
niacin (NAD/NADP), serotonin, melatonin
urea cycle
occurs in liver
end: arginine + H20 --> urea + ornithine
phenylalanin derivatives
--> tyrosin (and thyroxine) --> dopa (and melanin) --> dopamine --> NE --> epi
glycine derivatives
porphyrin --> heme
arginine derivatives
creatine, urea, nitric oxide
glutamate derivates
what AA builds up?
congenital deficiency in degradative pathway of tyrosine (tyosine builds u)
black urine upon standing
benign disease - arthralgias
deficiency of either tyrosinase (inability to synthesize melanin from tyrosine) or defective tyrosine transporters
lack of melanin increases risk of skin cancer
maple syrup urine disease
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
defect of renal tubular AA transporter for Cystine, Ornithine, Lysine and Arginine (COLA)
can lead to precipitation of cystine kidney stones
cause of SCIDs
ADA deficiency
accumulation of adenine (a purine)
prevents DNA synthesis
lesch-nyhan syndrome
LNS - lacks nucleotide salvage
X-linked recessive
findings - retardation, self-mutilation, aggression, hyperuricemia, gout
von gierkes disease
missing enzyme?
glycogen storage disorder
G6P phosphatase deficiency
sever hypoglycemia, increase glycogen in liver, hepatomegaly, increased blood lactate
Pompe's disease
pompe's trashes the pump
cardiomegaly leads to early death
Niemann-pick disease
lysosome storage disorder
progressive neurodegeneration, hepatomegaly, cherry-red spot
deficient in sphingomyelinase
Krabbe's disease
lysosome storage disorder, deficient in beta-galactosidase
findings: peripheral neuropathy, developmental delay, optic atrophy
progressive neurodegneration, lysosomes with onion skin
metachromatic leukodystrophy
central and peripheral demyelination with ataxia, dementia
Hurler's syndrome
developmental delay, gargoylism, corneal clouding
X linked recessive lysosome storage disorders
Hunters and Fabrys