Biochem2

Question 1

AR diseases ?

Answer 1

albinism, glycogen storage, hemochromatosis, thalassemia, PKU

Question 2

infertilty in males w/ cystic fibrosis due to ?

Answer 2

no vas deferens

Question 3

XLR disorders ?

Answer 3

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

Question 4

fragile X syndrome affects which gene ?

Answer 4

hypermethylation of FMR1 gene

Question 5

myotonic dystrophy (CTG) ?

Answer 5

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

Question 6

cri du chat syndrome affects what chromo ?

Answer 6

short arm of chromo 5

Question 7

william’s syndrome affects what chromo ?

Answer 7

long arm of chromo 7

see inc sensitivity to vit D –> hypercalcemia

Question 8

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

Answer 8

vit A

Question 9

vit B1 thiamine for ?

Answer 9

branched aa dehydrogenase
alpha ketoglut DH
transketolase
pyruvate DH

Question 10

vit B7 biotin for ?

Answer 10

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

Question 11

propiony coA from what ?

Answer 11

val, ile, met, thre

odd # FAs, cholesterol side chains

Question 12

most common vit def in US ?

Answer 12

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

Question 13

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

Answer 13

vit b12 cobalamin

Question 14

D2 ergocalciferol vs D3 cholecalciferol ?

Answer 14

D2 ingested from plants //

D3 in milk and sun exposed skin

Question 15

which mineral def may predispose to alcoholic cirrhosis?

Answer 15

zinc

Question 16

which vits have problems if in EXCESS ?

Answer 16

vit A, B3 niacin, C, D

Question 17

which enzyme in ethanol metab operates via 0 order kinetics ?

Answer 17

alcohol dehydrogenase

Question 18

in kwashiorkor, liver malfxn due to ?

Answer 18

fatty change due to dec apolipoprotein synth

Question 19

pyruvate DH complex activated by exercise due to ?

Answer 19

inc NAD/NADH ratio, inc ADP, inc Ca

Question 20

arsenic inhibits which part of pyruvate DH complex ?

Answer 20

lipoic acid ;

vomiting, rice water stools, garlic breath

Question 21

pyruvate DH complex def causes inc ? tx ?

Answer 21

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

tx is ketogenic aa (lysine and leucine)

Question 22

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

Answer 22

ALT and B6

Question 23

LDH for pyruvate to lactate (cori cycle) uses ?

Answer 23

LDH and B3 and NADH

Question 24

atp synthase inhibitor acting on ATP synthase ?

Answer 24

oligomycin on (5)

Question 25

electron transport inhbitors ?

Answer 25

``` rotenone (I) antimycin A (3) cyanide and CO (4) ```

Question 26

uncoupling agents ?

Answer 26

2,4 DNP, aspirin

Question 27

``` pyruvate carboxylase (gluconeo) regulators and requires ? vs PEPCK (gluconeo) requires ? ```

Answer 27

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

Question 28

even chain FAs cannot produce new glucose b/c ?

Answer 28

yield only acetyl CoA equivs

Question 29

most common urea cycle disorder ? changes in BUN ?

Answer 29

OTC ; dec BUN

Question 30

benzoate or phenylbutyrate used for ?

Answer 30

hyperammonemia

Question 31

alkaptonuria/ ochronosis ?

Answer 31

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

Question 32

albinism variable inheritance due to ?

Answer 32

locus heterogeneity

Question 33

lens subluxation (downward and inward) seen in ?

Answer 33

homocystinuria; also see tall stature, kyphosis, athersclerosis

Question 34

glycogenolysis enzymes ? vs glycogenesis ?

Answer 34

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

Question 35

glycogen phosphorylase (glycogenolysis) regulators ?

Answer 35

++ AMP, glucagon, epi | -- ATP, insulin

Question 36

urea cycle RLS and regs ?

Answer 36

CPS 1 ; ++ N acetylglutamate

Question 37

no hepatosplenomegaly in which lysosomal storage disease ?

Answer 37

tay sachs

Question 38

pompes disease enzyme ?

Answer 38

lysosomal alpha 1,4 glucosidase aka acid maltase

Question 39

enzymes for FA synth and regs ?

Answer 39

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

Question 40

enzymes for FA oxidation and regs ?

Answer 40

carnitine acyltransferase I (RLS) == -- malonyl coA // | acyl coA dehydrogenase!

Question 41

acyl coA dehydrogenase def like MCAD ?

Answer 41

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

Question 42

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

Answer 42

peroxisomes !

Question 43

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

Answer 43

prolonged starvation and DKA (OAA into gluconeogenesis) | alcholism (excess NADH shunts OAA to malate)

Question 44

pancreatic lipase fxn ? | LPL fxn ?

Answer 44

degrades dietary TG in SI / | degrades TG in chylomicrons and VLDL

Question 45

hormone sensitive lipase ?

Answer 45

degrades TG stored in adipocytes; | dec by insulin, inc by epi and cortisol

Question 46

which apopliprotein activates LCAT ?

Answer 46

AI | lcat is for esterification of cholesterol

Question 47

type 4 - hypertriglyceridemia ?

Answer 47

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

Question 48

HLD responsible for ?

Answer 48

reverse cholesterol transport for periphery to liver

Question 49

what carries most cholesterol ?

Answer 49

LDL and HDL

Question 50

only apopliprotein for LDL ?

Answer 50

B100 - also for VLDL, IDL