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Biochem2 > Biochem2 > Flashcards

Biochem2 Flashcards

1
Q

AR diseases ?

A

albinism, glycogen storage, hemochromatosis, thalassemia, PKU

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2
Q

infertilty in males w/ cystic fibrosis due to ?

A

no vas deferens

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3
Q

XLR disorders ?

A

brutons, wiskott aldrich, fabrys, G6PD def, ocular albinism, lesch nyan, duchennes and beckers, hemophila, hunters, OTC

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4
Q

fragile X syndrome affects which gene ?

A

hypermethylation of FMR1 gene

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5
Q

myotonic dystrophy (CTG) ?

A

AD disorder; no necrosis of mm fibers or fibrofatty replacement; sustained mm contraction, also cataracts

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6
Q

cri du chat syndrome affects what chromo ?

A

short arm of chromo 5

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7
Q

william’s syndrome affects what chromo ?

A

long arm of chromo 7

see inc sensitivity to vit D –> hypercalcemia

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8
Q

which vit found in stellate cells in Disse space of liver ?

A

vit A

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9
Q

vit B1 thiamine for ?

A

branched aa dehydrogenase
alpha ketoglut DH
transketolase
pyruvate DH

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10
Q

vit B7 biotin for ?

A

Pyruvate carboxylase (gluconeogen)
acetyl coA carboxylase (FA)
propionyl coA carboxylase

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11
Q

propiony coA from what ?

A

val, ile, met, thre

odd # FAs, cholesterol side chains

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12
Q

most common vit def in US ?

A

vit B9 folic acid (also caused by phenytoin, sulfonamides, MTX)

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13
Q

which vit synthesized only by microorganisms, found in animal products ?

A

vit b12 cobalamin

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14
Q

D2 ergocalciferol vs D3 cholecalciferol ?

A

D2 ingested from plants //

D3 in milk and sun exposed skin

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15
Q

which mineral def may predispose to alcoholic cirrhosis?

A

zinc

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16
Q

which vits have problems if in EXCESS ?

A

vit A, B3 niacin, C, D

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17
Q

which enzyme in ethanol metab operates via 0 order kinetics ?

A

alcohol dehydrogenase

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18
Q

in kwashiorkor, liver malfxn due to ?

A

fatty change due to dec apolipoprotein synth

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19
Q

pyruvate DH complex activated by exercise due to ?

A

inc NAD/NADH ratio, inc ADP, inc Ca

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20
Q

arsenic inhibits which part of pyruvate DH complex ?

A

lipoic acid ;

vomiting, rice water stools, garlic breath

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21
Q

pyruvate DH complex def causes inc ? tx ?

A

inc backup of pyruvate and alanine (via ALT and B6)

tx is ketogenic aa (lysine and leucine)

22
Q

alanine aminotransferase for pyruvate (cahill cycle) to alanine uses ?

A

ALT and B6

23
Q

LDH for pyruvate to lactate (cori cycle) uses ?

A

LDH and B3 and NADH

24
Q

atp synthase inhibitor acting on ATP synthase ?

A

oligomycin on (5)

25
Q

electron transport inhbitors ?

A 
rotenone (I)
antimycin A (3)
cyanide and CO (4)
26
Q

uncoupling agents ?

A

2,4 DNP, aspirin

27
Q 
pyruvate carboxylase (gluconeo) regulators and requires ?
vs PEPCK (gluconeo) requires ?
A

in mito
needs ATP and biotin
activated by acetyl CoA !!! //
PEPCK requires GTP

28
Q

even chain FAs cannot produce new glucose b/c ?

A

yield only acetyl CoA equivs

29
Q

most common urea cycle disorder ? changes in BUN ?

A

OTC ; dec BUN

30
Q

benzoate or phenylbutyrate used for ?

A

hyperammonemia

31
Q

alkaptonuria/ ochronosis ?

A

congential def of homogentisic acid oxidase in degradative pathway of tyrosine –> fumurate

32
Q

albinism variable inheritance due to ?

A

locus heterogeneity

33
Q

lens subluxation (downward and inward) seen in ?

A

homocystinuria; also see tall stature, kyphosis, athersclerosis

34
Q

glycogenolysis enzymes ? vs glycogenesis ?

A

glucagon, cAMP, protein kinase A, glycogen phosphorylase kinase //
insulin, protein phosphatate

35
Q

glycogen phosphorylase (glycogenolysis) regulators ?

A

++ AMP, glucagon, epi

– ATP, insulin

36
Q

urea cycle RLS and regs ?

A

CPS 1 ; ++ N acetylglutamate

37
Q

no hepatosplenomegaly in which lysosomal storage disease ?

A

tay sachs

38
Q

pompes disease enzyme ?

A

lysosomal alpha 1,4 glucosidase aka acid maltase

39
Q

enzymes for FA synth and regs ?

A

ACC w/ B7 (RLS) = ++ citrate, insulin and – glucagon, palmitoyl CoA //
also ATP citrate lyase

40
Q

enzymes for FA oxidation and regs ?

A

carnitine acyltransferase I (RLS) == – malonyl coA //

acyl coA dehydrogenase!

41
Q

acyl coA dehydrogenase def like MCAD ?

A

fasting hypoglycemia, inc dicarboxylic acids, dec glucose and ketones, C8-C10 acyl carnitines in blood

42
Q

VLCFAs and FAs w/ branch points at ODD carbons metabolized where ?

A

peroxisomes !

43
Q

what processes stall TCA cycle and thus shunt glucose and FFA to ketone body synth ?

A

prolonged starvation and DKA (OAA into gluconeogenesis)

alcholism (excess NADH shunts OAA to malate)

44
Q

pancreatic lipase fxn ?

LPL fxn ?

A

degrades dietary TG in SI /

degrades TG in chylomicrons and VLDL

45
Q

hormone sensitive lipase ?

A

degrades TG stored in adipocytes;

dec by insulin, inc by epi and cortisol

46
Q

which apopliprotein activates LCAT ?

A

AI

lcat is for esterification of cholesterol

47
Q

type 4 - hypertriglyceridemia ?

A

AD; hepatic overproduction of VLDL; inc VLDL and TGs; causes pancreatitis

48
Q

HLD responsible for ?

A

reverse cholesterol transport for periphery to liver

49
Q

what carries most cholesterol ?

A

LDL and HDL

50
Q

only apopliprotein for LDL ?

A

B100 - also for VLDL, IDL

Biochem2 (1 decks)

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