weak on

Question 1

I cell disease problem and symptoms

Answer 1

n acetylglucosaminly 1 phosphate not adding mannose 6 P to get proteins to lysosomes
coarse facial features, clouded corneas, restricted joint movement and high plasma levels lysosomal enzymes, fatal in childhood

Question 2

proteasome

Answer 2

ubiquitin

Question 3

peroxisome

Answer 3

long fatty chain acids, branched chain fatty acids and aa

Question 4

vimentin

Answer 4

CT stain

Question 5

Na K ATPase direction

Answer 5

3Na out

2K in

Question 6

diseases with problems cross linking collagen

Answer 6

ehlers danlos and menkes (lysyl oxidase)

Question 7

heritance osteogenesis imperfecta

Answer 7

auto dom

Question 8

signs menkes

Answer 8

kinky hair

growth retardation and hypotonia

Question 9

li fraumeni malignancies

Answer 9

sarcoma, breast, leukemia adrenal gland

Question 10

branching skin lesions, nose bleeds and skin discolorations with arteriovenous malformations, hematuria, GI bleeding

Answer 10

hereditary hemorrhagic telangiectasia, osler weber rendu

Question 11

defect in hereditary spherocytosis

Answer 11

spectrin or ankyrin

get hemolytic anemia

Question 12

enzymes increased in duchene

Answer 12

CPK and aldolase

Question 13

myotonia muscle wastin cataracts, testicular atrophy , frontal balding and arrhythmia

Answer 13

myotonic type 1

auto dom CTG DMPK gene

Question 14

fragile X Sx and mutation

Answer 14

2nd most common cause retardation, macroorchidism, long face large jaw, large everted ears, autism, mitral valve prolapse
CGG on FMR1

Question 15

common chromosomal cause of miscarriage

Answer 15

unbalanced chromosomal translocation

Question 16

pathways and enzymes involved that need thiamine

Answer 16

Glycolysis-TCA pyruvate dehydrog
TCA- alpha ketoglutarate dehydrog
HMP- transketolase
branched ketoacid dehydrogenase

Question 17

how to avoid facial flushing with niacin

Answer 17

take aspirin

Question 18

drugs that can cause folic acid deficiency

Answer 18

MTX
phenytoin
sulfonamides

Question 19

vit C needed for what reactions

Answer 19

dopamine beta hydroxylase which converts dopamine to NE
hydroxylation of proline and lysine for collagen synthesis(corkscrew hair)

also helpful in methemoglobinemia

Question 20

vit E deficiency Sx

Answer 20

hemolytic anemia
muscle weakness
post column and spinocerebellar degeneration
acanthocytosis

Question 21

ratio NADH NAD in chronic alcoholism

Answer 21

inc NADH to NAD+

favoring lactic acidosis and fasting hypoglycemia and hepatosteatosis

Question 22

what metabolism pathways occur in mitochondria

Answer 22

fatty acid oxidation (beta)
acetyl CoA production
TCA cycle
oxidative phos
ketogenesis
Heme, urea and gluconeogenesis (inside and out)

Question 23

after drinking fruit juice, child vomits, jaundiced with elevated liver enzymes and signs hypoglycemia

Answer 23

fructose intolerance
aldolase B auto recessive
limit fructose and sucrose

Question 24

infantile cataracts

Answer 24

galactokinase deficiency
autosomal recessive
if have HSM too and failure to thrive than classic– galactose 1 phos[hate uridyltransferase

Question 25

drug that decreases colon's bacteria that produce ammonia

Answer 25

rifaximin

Question 26

what enzyme deficiencies can cause hyperammonia

Answer 26

``` CPS I N acetylglutamate synthase def OTC def (x linked) and inc oroti acid ```

Question 27

precursor aa for dopa, NE and epi

Answer 27

phenylalanine

Question 28

tryptophan is a precursor for

Answer 28

niacin and serotonin= fanning because Im blushing

Question 29

toxic metabolit in alkaptonuria

Answer 29

homogentisic acid

Question 30

findings of homocysteinuria

Answer 30

``` inc homcystein in urine retardatino osteoporosis marfacnoid kyphosis lens subluxation thrombosis atheroslcerosis (MI and strokes) ```

Question 31

nitroprusside test

Answer 31

cysteinuria defect in PCT prevents absorption cysteine, ornithine, lysine, arginine

Question 32

peripheral neuropathy of hands an feet angiokeratomas CV renal disease

Answer 32

Fabrys X linked recessive a galactosidase A accumulate ceramide trihexoside

Question 33

lipid laden macros that look like crumpled tissue papaer in boy with HSM, and osteoporosis

Answer 33

gaucher auto rec | glucocerebrocidase

Question 34

cherry red spot macula and foam cells

Answer 34

neimenn pick auto rec | sphingomyelinase

Question 35

cherry red spot on macula and lysosomes with onion skinning

Answer 35

tay sachs hexosaminidast accum GM ganglioside auto rec

Question 36

lysosomal storage disease with ataxia and dementia

Answer 36

arylsulfatase A | metachromatic leukodystrophy

Question 37

accum heparant sulfate and dermatan sulfate

Answer 37

hunter - x linked no corneal clouding | hurler- auto rec corneal clouding

Question 38

with type IV dyslipidemia at risk for

Answer 38

acute pancreatitis auto dominant hepatic overproduction VLDL inc inc TG

Question 39

what antimicrobial inhibits RNA polymerase therefore mRNA synthesis

Answer 39

rifampin

Question 40

what inhibits peptidoglycan synthesis

Answer 40

bacitracin and vanco

Question 41

inhbits 50S

Answer 41

``` macrolides streptogramins chloramphenicol clindamycin linezolid ```

Question 42

penicillinase R penicillins used for

Answer 42

S aureus, not MRSA( altered penicillin binding protein)

Question 43

R to cephalosporings

Answer 43

penicillin binding proteiins | transpeptidases

Question 44

what antibiotic works on gram neg rods only

Answer 44

aztreonam monobactam inhibits PBP3 good for renal insuff patients or penicillin allergy

Question 45

toxicity AG

Answer 45

nephro and oto can cause neurmusc block is teratogen--- CN VIII

Question 46

which inhibitor of 30S is bacteriocidal? bacteriostatic?

Answer 46

cidal- AG | bacteriostatic-- tetracyclines

Question 47

R to tetracyclines

Answer 47

efflux pumps | dec uptake

Question 48

which drug blcoks rRNA 23

Answer 48

macrolids on 50s

Question 49

disrupts cell membranes of gram + cocci, not to be used for pneumonia

Answer 49

daptomycin

Question 50

disulfiram reaction, seen when

Answer 50

tachy, flushing, hypotension | metro + alcohol