Biochemistry

Question 1

Glycolysis

Answer 1

Phosphofruktokinase-1 (PFK-1)

Question 2

Gluconeogenesis

Answer 2

Fructose-1,6-bisphosphate

Question 3

TCA cycle

Answer 3

Isocitrate Dehydrogenase

Question 4

Glycogen synthesis

Answer 4

Glycogen synthase

Question 5

Glycogenolysis

Answer 5

Glycogen phosphorylase

Question 6

HMP shunt

Answer 6

Glucose 6 phosphate dehydrogenase (G6PD)

Question 7

De novo pyrimidine synthesis

Answer 7

Carbamoyl phosphate synthetase II

Question 8

De novo purine synthesis

Answer 8

Glutamine PRPP amidotransferase

Question 9

Urea Cycle

Answer 9

Carbamoyl phosphate synthetase I

Question 10

Fatty Acid Oxidation

Answer 10

Carnitine acyltransferase I

Question 11

Fatty acid synthesis

Answer 11

Acetyl CoA carboxylase

Question 12

Ketogenesis

Answer 12

HMG-CoA synthase

Question 13

Cholesterol Synthesis

Answer 13

HMG-CoA reductase

Question 14

glucose to glucose-6-phosphate

Answer 14

Hexokinase
High affinity (low Km), uninduced by insulin

Question 15

glucose to glucose-6-phosphate in liver and B-cells of pancrease

Answer 15

Glucokinase
low affinity (high Km), induced by insulin
phophorylates excess glucose

Question 16

Carries amino acids to liver from muscle

Answer 16

alanine

Question 17

Location of TCA

Answer 17

mitochondria

Question 18

NADPH

Answer 18

Reduces Glutathione
def = hemolytic anemia, heinz bodies, bite cells

Question 19

Fructose intolerance:

hypoglycemia, jaundice, cirrhosis, vomiting

Answer 19

def of Aldolase B

Question 20

Amino Acids required during growth

Answer 20

Arg and His.

Are increased in histones, which bind neg charged DNA

Question 21

Hyperammonemia: acquired or urea cycle enzyme def

Answer 21

Results in excess NH4, which depletes alpha-ketoglutarate, leading to inhibition of TCA

Question 22

MC urea disorder. Excess carbamoyl phosphate is converted to orotic acid.

Answer 22

Ornithine transcarbamoylase deficiency.

results in hyperammonemia

Question 23

Phenylalanine derivatives

Answer 23

–>Tyrosine –> Dopa –> dopamine –> NE –>Epi

melanin comes from Dopa

Question 24

Tryptophan derivatives

Answer 24

B6 –> Niacin –> NAD/NADP
or
BH4 –> serotonin –> melatonin

Question 25

Glutamate derivatives

Answer 25

B6 --> GABA

Question 26

Mental retardation, growth retardation, sezures, fair skin, musty odor, infant

Answer 26

``` Phenylketonuria def phenylalanine hydroxylase ```

Question 27

dark connective tissue and urine turns black on prolonged exposure to light

Answer 27

``` Alkaptonuria def of homogentisic acid oxidase ```

Question 28

Albanism

Answer 28

deficiency of tyrosine, defective tyrosine transporters, or lack of migration of neural crest cells.

Question 29

Inc homosystein in urine, mental retardation, tall, lens sublexation, athrosclerosis

Answer 29

Homocystinuria 1. cystathione synthase deficiency 2. def B6 3. Homocysteine methyltransferase (req B12)

Question 30

Cystinuria

Answer 30

Staghorn calculi

Question 31

Maple syrup urine

Answer 31

``` def of alpha-ketoacid dehydrogenase. blocks degradation of branched amino acids ```

Question 32

tryptophan excreted in urine and decreased absorption in gut

Answer 32

Hartnups. Leads to pellagra

Question 33

Von Gierkes disease

Answer 33

Glucose-6-phosphate def

Question 34

Pompe's disease

Answer 34

Lysosomal alpha 1,4 glucosidase

Question 35

Cori's Disease

Answer 35

Debranching enzyme (alpah-1,6-glucosidase

Question 36

McArdles: | painful muscle cramps, myoglobinuria with strenuous exercise.

Answer 36

glycogen phosphorylase def in skeletal muscle

Question 37

peripheral neuropathy of hands and feet, angiokeratomas, cardio/renal disease

Answer 37

Fabry's: a-galctosidase A def

Question 38

Hepatosplenomegaly, crumpled up tissue cells

Answer 38

Gaucer's disease: Glucocerbrosidase def

Question 39

cherry red spots on macula, neurodegeneraion, hepatosleenomegally

Answer 39

Niemann-picks disease: sphingomyelinase def

Question 40

cherry red spots on macula, neurodegeneraion, No hepapatospleenomegaly

Answer 40

Tay-sachs: Hexosaminidase A

Question 41

Peripheral neruopathy with optic atrophy, developmental delay

Answer 41

Krabbe's disease: B-galactocerebrosidase

Question 42

Central and perish demylination with ataxia and dementia

Answer 42

Metachromatic leukodystrophy: arylsulfatase A def

Question 43

Developmental delay, gargoylism, airway obstruction, corneal clouding

Answer 43

Hurler's: a-L-iduronidase | Accumulation of: Heparn and dermatan sulfate

Question 44

agressive behavior, no corneal clouding, mild hurlers

Answer 44

Hunter's: Iduronate sulfatase def. accumulation: Heparan and Dermatan sulfate. XR

Question 45

Cholesterol Synthesis

Answer 45

HMG-CoA reductase | "-statins" inhibit

Question 46

Mediates remnant uptake

Answer 46

Apo-E

Question 47

Mediates cylomicron secretion

Answer 47

Apo-B48

Question 48

Binds LDL receptor

Answer 48

Apo-B100

Question 49

Transports cholesterol from liver to tissue

Answer 49

LDL

Question 50

Transports cholesterol from periphery to liver

Answer 50

HDL

Question 51

Delivers dietary TG to peripheral tissue. Delivers cholesterol to liver.

Answer 51

Chylomicron

Question 52

Delivers hepatic TG to peripheral tissue. Secreted by liver.

Answer 52

VLDL

Question 53

Formed tin the degredation of VLDL. Delivers TG and cholesterol to liver.

Answer 53

IDL

Question 54

Delivers hepatic cholesterol to peripheral tissue. formed by lipoprotein lipase

Answer 54

LDL

Question 55

Acts as a repository for Apo E and Apo C (which are needed for chylomicron and VLDL metabolism)

Answer 55

HDL

Question 56

Increased chylomicrons in blood, pancreatitis, hepatomegaly, pruitic xanthomas

Answer 56

hyper-chylomicronemia. | Lipioprotein lipase deficiency or altered Apo C2.

Question 57

accelerated atherosclerosis, tendon xanthomas, and corneal arcus

Answer 57

Familial hypercholestrolemia. | LDL receptor def

Question 58

infant. failure to thrive, steatorrhea, ancanthocytosis, ataxia, night blindness

Answer 58

Abetalipoproteinemia. inability to synthasize lipoproteins due to def in aboB100 or apoB48