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First Aid > Biochemistry/Nutrition > Flashcards

Biochemistry/Nutrition Flashcards

1
Q

What is vitamin B1? What is the main molecule where vitamin B1 is found?

A

thiamine

thiamine pyrophosphate

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2
Q

What is vitamin B2? What are the main two molecules that vitamin B2 is found?

A

riboflavin

FAD and FMN

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3
Q

What is vitamin B5? What is the main molecule where vitamin B5 is found?

A

pantothenic acid

co-enzyme A

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4
Q

What is vitamin B6? What is the main molecule where vitamin B6 is found? What type of enzymatic rxn is B6 involved in?

A

pyridoxal phosphate

PLP

aminotransferase

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5
Q

What is vitamin B7?

A

biotin

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6
Q

What is vitamin B9?

A

folate

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7
Q

What is vitamin B12?

A

cobalamin

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8
Q

What is another name for vitamin A?

A

retinol

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9
Q

What vitamin is necessary for differentiation of epithelial tissues?

A

vitamin A

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10
Q

Deficiency of what vitamin can cause corneal degeneration?

A

vitamin A

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11
Q

What type of enzyme is vitamin B1 needed for?

A

dehydrogenase

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12
Q

What are four dehydrogenases vitamin B1 is necessary for?

A
  1. α-ketoglutarate dehydrogenase
  2. transketolase
  3. PDH
  4. branched-chain ketoacid dehydrogenase
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13
Q

Wernicke-Korsakoff affects what two structures in the brain?

A

Mamilary bodies

Medial Dorsal Nucleus of Thalamus

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14
Q

B1 deficiency impairs the breakdown of what metabolic product?

A

glucose

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15
Q

What two tissues are affected first by Wernicke-Korsakoff Syndrome?

A

brain and heart

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16
Q

How are WK and Beriberi diagnosed?

A

increased transketolase activity of RBCs after B1 infusion

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17
Q

What are two signs of vitamin B2 deficiency?

A

Cheliosis and Corneal vascularization

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18
Q

What type of reaction is B2 used in?

A

redox

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19
Q

What B vitamin is derived from tryptophan?

A

niacin

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20
Q

The synthesis of niacin requires what two B vitamins?

A

B2 and B6

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21
Q

What B vitamin can be used to treat dyslipidemia? What is raised and lowered?

A

B3

VLDL = lowered

HDL = raised

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22
Q

What amino acid is not absorbed in Hartnup disease? What B vitamin is administered to relieve the effects?

A

tryptophan

Niacin

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23
Q

Deficiency of what two products can lead to pellagra?

A

Niacin or Tryptophan

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24
Q

Malignant carcinoid consumes what amino acid in excess?

A

Tryptophan

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25
Q

A carcinoid tumor is derived from what type of cell? Where do most carcinoid tumors arise?

A

neuroendocrine

midgut

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26
Q

What neurotransmitter do carcinoid tumors release? What amino acid is this neurotransmitter derived from?

A

serotonin

serotonin derived from Trp

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27
Q

Deficiency of what vitamin can lead to adrenal insufficiency?

A

B5

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28
Q

What three type of reactions is vitamin B6 used for?

A

transamination

decarboxylation

glycogen phosphorylase

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29
Q

Name a common food with a large supply of avidin? What B vitamin can this cause a decrease i?

A

raw egg whites

B7 (biotin)

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30
Q

Biotin is necessary for what type of reactions?

A

carboxylation

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31
Q

What is the primary symptom of folate deficiency?

A

macrocytic, megaloblastic anemia

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32
Q

What amino acid metabolism rxn are folate/B12 necessary for?

A

homocysteine to methionine

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33
Q

What three drugs can cause B9 deficiency?

A

phenytoin, methotrexate, sulfonamides

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34
Q

In a vitamin B9 deficiency, are methylmalonic acid levels normal?

A

yes

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35
Q

In a vitamin B12 deficiency, are methylmalonic acid levels normal?

A

higher

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36
Q

Other than homocysteine to cysteine, what other rxn is B12 required for?

A

methylmalonyl-CoA to succinyl-CoA

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37
Q

Deficiency of what B vitamin can cause subacute combined syndrome?

A

B12

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38
Q

What three tracts are destroyed durig subacute combined syndrome?

A

DCML

lateral corticospinal

spinocerebellar

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39
Q

What helminth can cause B12 deficiency? What is another name for this helminth?

A

Diphyllobothrium latum

fish tapeworm

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40
Q

What enzyme of adrenergic synthesis is dependent on Vitamin C?

A

dopamine β-hydroxylase

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41
Q

What are the two names for vitamin D absorbed from milk?

A

vitamin D3

cholecalciferol

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42
Q

In what layer of the epidermis does vitamin D conversion take place?

A

stratum basale

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43
Q

What is the storage form of D3?

A

25OH-D3

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44
Q

What is the active form of D3? What is another name for this?

A

1,25OH-D3

calcitriol

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45
Q

What type of cell can aberrantly activate D3? When is this seen?

A

epitheliod macrophage/histiocyte

sarcoidosis/granuloma

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46
Q

What is an acanthocyte?

A

spiked erythrocyte

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47
Q

What vitamin protects RBCs from free-radical damage?

A

Vitamin E

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48
Q

A decrease of what vitamin may present similar neurological symptoms to B12 deficiency but without what other three symptoms?

A
  1. megaloblastic anemia
  2. hypersegmented neutrophils
  3. no increase in methyl-malonic acid
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49
Q

What vitamin can act as an anticoagulant?

A

Vitamin E

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50
Q

Other than II, VII, IX and X, what clotting factors are dependent on vitamin K?

A

Protein C and Protein S

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51
Q

What enzyme that processes alcohol is located in the cytosol?

A

alcohol dehydrogenase

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52
Q

What enzyme that processes alcohol is located in the mitochondria? What is the product of this enzyme?

A

acetylaldehyde dehydrogenase

acetate

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53
Q

What is the limiting reagent for alcohol metabolism?

A

NAD+

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54
Q

What molecule does FA synthesis begin with?

A

glycerol-3-phosphate

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55
Q

During heavy alcohol consumption, what does OAA get converted into? What does this prevent?

A

malate

gluconeogenesis

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56
Q

During heavy alcohol consumption, what does pyruvate get converted into? What is the result of this?

A

lactic acid

lactic acidosis

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57
Q

During heavy alcohol consumption, what does glyceraldehyde-3-phosphate get converted into? What is the result of this?

A

glycerol-3-phosphate

fatty acid synthesis

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58
Q

During excess alcohol consumption, why does ketogenesis take place?

A

acetyl-CoA is shunted into ketogenic pathways rather than TCA

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59
Q

What drug inhibits alcohol dehydrogenase?

A

Fomepizole

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60
Q

What drug inhibits acetylaldehyde dehydrogenase?

A

Disulfarim

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61
Q

Why does a child with Kwashiorkor develop fatty liver?

A

decrease apolipoprotein synthesis

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62
Q

What is marasmus?

A

muscle wasting

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63
Q

Where in the cell does β-oxidation occur?

A

mitochondria

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64
Q

Where in the cell does glycolysis occur?

A

cytosol

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65
Q

Where in the cell does fatty acid synthesis occur?

A

cytosol

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66
Q

Where in the cell does acetyl-CoA synthesis occur?

A

mitochondria

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67
Q

Where in the cell does the TCA occur?

A

mitochondria

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68
Q

Where in the cell does oxidative phosphorylation occur?

A

mitochondria

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69
Q

Where does HMP Shunt (PPP) occur in cells?

A

cytosol

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70
Q

What is the acronym to remember which metabolic processes occur in both the mitochondria and cytosol? What are they?

A

HUG

Heme synthesis, Urea cycle and Gluconeogenesis

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71
Q

What is the rate limiting enzyme of glycolysis? What is the product?

A

PFK1

F16bP

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72
Q

What molecule activates PFK1?

A

F26bP

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73
Q

What two compounds inhibit PFK1?

A

ATP and citrate

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74
Q

What is the rate limiting enzyme of GNG? What is the product?

A

F16bPase

F6P

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75
Q

What are the two activators of F16bPase?

A

ATP and acetyl-CoA

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76
Q

What are the two negative regulators of F16bPase?

A

AMP and F26bP

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77
Q

What is the rate limiting enzyme of the TCA cycle? What is the main activator?

A

isocitrate dehydrogenase

AMP

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78
Q

What is the rate limiting enzyme of glycogenesis? What are the two hormone activators of glycogenesis?

A

glycogen synthase

insulin and cortisol

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79
Q

What are the two negative hormone regulators of glycogenesis?

A

epinephrine and glucagon

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80
Q

What is the rate limiting enzyme of glycogenolysis? What are the two hormone activators of glycogen phosphorylase?

A

glycogen phosphorylase

epinephrine and glucagon

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81
Q

What is the negative hormone regulator of glycogenolysis?

A

insulin

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82
Q

What is the main enzyme of the HMP Shunt (PPP)?

A

G6PD

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83
Q

What is the main positive regulator of HMP Shunt (PPP) pathway?

A

positive = NADP+

negative = NADPH

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84
Q

What is the rate limiting enzyme of pyrimidine synthesis?

A

carbamoyl phosphate synthetase II

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85
Q

What two organs are involved in the malate aspartate shutle?

A

heart and liver

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86
Q

What does CoA carry?

A

acyl groups

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87
Q

What does biotin carry?

A

CO2

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88
Q

What does THF carry?

A

one-carbon groups

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89
Q

What does SAM carry?

A

methyl group

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90
Q

What does TPP carry?

A

aldehydes

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91
Q

Is NAD+ used in catabolic or anabolic processes?

A

catabolic

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92
Q

Is NADP+ used in catabolic or anabolic processes?

A

anabolic

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93
Q

What reducing equivalent is used in the respiratory burst?

A

NADPH

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94
Q

What reducing equivalent is used in the cytochrome p450 system?

A

NADPH

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95
Q

Which has higher affinity, glucokinase or hexokinase?

A

hexokinase

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96
Q

What two locations is hexokinase not located?

A

liver and β-cells of pancreas

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97
Q

Where is glucokinase located?

A

liver and β-cells of pancreas

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98
Q

Which has a higher Vmax, hexokinase or glucokinase?

A

glucokinase

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99
Q

Is hexokinase or glucokinase induced by insulin?

A

glucokinase

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100
Q

Which is feedback inhibited by G6P, hexokinase or glucokinase?

A

hexokinase

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101
Q

Is glucokinase or kexokinase associated with MODY?

A

glucokinase

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102
Q

How many pyruvate molecules are produced per glucose during glycolysis?

A

two

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103
Q

How many ATP molecules are produced per glucose during glycolysis?

A

two

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104
Q

How many NADH molecules are produced per glucose during glycolysis?

A

two

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105
Q

What are the two enzymes of glycolysis that produce ATP?

A

pyruvate kinase and phosphoglycerate kinase

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106
Q

Does glucagon increase or decrease cAMP/PKA?

A

increases

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107
Q

Does insulin increase or decrease cAMP/PKA?

A

decrease

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108
Q

Do cAMP/PKA activate or inhibit PFKII?

A

inhibit

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109
Q

Does F26bP inhibit or activate PFK1? Does this lead to an increase in glycolysis or GNG?

A

activate

glycolysis

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110
Q

Does F26bP inhibit or activate Fructose bisPhosphatase? Does this lead to an increase in glycolysis or GNG?

A

inhibit

GNG

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111
Q

What are the two energy equivalents produced by the PDH complex?

A

Acetyl-CoA and NADH

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112
Q

PDH is similar to what other complex? What is the product of this pathway?

A

α-ketoglutarate dehydrogenase

succinyl-CoA

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113
Q

What co-factor of the PDH does arsenic inhibit? What are the three symptoms?

A

Lipoic acid

vomiting, rice-water stools, garlic breath

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114
Q

What are the five co-factors of the PDH?

A
  1. Pyrophosphate (thiamine, B1)
  2. FAD
  3. NAD
  4. CoA (B5, pantothenic acid)
  5. Lipoic acid
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115
Q

If the PDH is non-functional, what two molecules does pyruvate get shunted into? What enzymes?

A

lactate (via LDH)

alanine (ALT)

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116
Q

What is the dietary modification for PDH Deficiency?

A

ketogenic diet

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117
Q

What is Cori cycle? What is produced? Where? What molecule gets transported?

A

glucose

liver

lactate

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118
Q

Does fermentation produce NAD+ or NADH?

A

NAD+

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119
Q

What rxn does pyruvate carboxylase catalyze? What B vitamin is involved?

A

pyruvate into OAA

biotin

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120
Q

What reducing equivalent does the malate-aspartate shuttle bring into the mitochondria?

A

NADH

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121
Q

What reducing equivalent does the glycerol-3-phosphate shuttle bring into the mitochondria?

A

FADH2

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122
Q

What is complex I of the ETC? What drug inhibits complex I?

A

NADH Dehydrogenase

Rotenone

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123
Q

What is complex II of the ETC? What reducing equivalet gets oxidized?

A

Succinate Dehydrogenase

FADH2

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124
Q

What is another name for complex III? What drug inhibits complex III?

A

Cyt-C Reductase

Antimycin A

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125
Q

What is another name for complex IV? What drug inhibits complex IV?

A

Cyt-C Oxidase

CO and Cyanide

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126
Q

What drug inhibits complex V?

A

Oligomycin

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127
Q

Other than 2,4-DNP, what other drug can cause electron uncoupling of the ETC?

A

aspirin

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128
Q

What is the mnenomic to remember the regulated steps of GNG?

A

Pathway Produces Fresh Glucose

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129
Q

What are the four regulated enzymes of GNG?

A
  1. Pyruvate carboxylase
  2. PEPCK
  3. F16bPase
  4. G6Pase
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130
Q

What rxn is catalyzed by PEPCK? WHat is used as energy to drive this reaction?

A

OAA to PEP

GTP

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131
Q

What two metabolic pathways are generated to produce NAD+ when a patient is consuming alcohol?

A

pyruvate to lactate

OAA to Malate

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132
Q

Odd chain fatty acids enter metabolism via what molecule? Odd chain fatty acids can enter the TCA via what molecule?

A

propionyl-CoA

succinyl-CoA

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133
Q

Can acetyl-CoA enter GNG pathways?

A

no

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134
Q

What are the two products of G6P Dehydrogenase?

A

ribulose-5-phosphate

NADPH

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135
Q

What vitamin cofactor do transketolases require?

A

B1

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136
Q

What are the three products of the non-oxidative phase of the HMP shunt?

A

G3P
F6P
ribose-5-phosphate

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137
Q

The respiratory burst requires what enzyme? What disease presents in the absence of this disease?

A

NADPH oxidase

chronic granulomatous disease

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138
Q

NADPH oxidase catalyzes what reaction in the respiratory burst?

A

O2 to superoxide

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139
Q

What rxn is catalyzed by superoxide dismutase?

A

superoxide to hydrogen peroxide

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140
Q

What is the substrate for myeloperoxidase? What is the product of myeloperoxidase?

A

H2O2

HOCl

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141
Q

Glutathione peroxidase destroys what molecule? What cofactor is required?

A

H2O2

selenium

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142
Q

Glutathione reductase catalyzes what rxn? What molecule is used as a source of energy for this reaction? What co-factor is required?

A

GSSG to GSH

NADPH

selenium

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143
Q

Which bacteria are patients with CGD at an increased risk for acquiring? Which fungus are patients with CGD at an increased risk for acquiring?

A

S. aureus

Aspergillus

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144
Q

Which bacteria possess pyocyanin? What is produced?

A

P. aeruginosa

ROS

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145
Q

What two locations is lactoferrin found?

A

secretory fluids and neutrophils

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146
Q

What is the sugar byproduct of G6P dehydrogenase?

A

6-phosphogluconate

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147
Q

In what cell type are Heinz bodies found? What are Heinz bodies composed of?

A

RBCs

oxidized hemoglobin

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148
Q

What is removed from ‘Bite Cells’?

A

Heinz bodies

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149
Q

In what two locations does fructose appear in Essential Fructosuria? What enzyme is absent? What is the mode of inheritance for fructosuria?

A

blood and urine

Fructokinase

autosomal recessive

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150
Q

What enzyme is absent in Fructose Intolerance? What product accumulates?

A

Aldolase B

Fructose-1-Phosphate

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151
Q

What are the two products of normal Aldolase B functioning?

A

Glyceraldehyde

DHAP

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152
Q

What enzyme converts glyceraldehyde into GA3P?

A

Triose Kinase

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153
Q

What two metabolic pathways are inhibited during Fructose Intolerance?

A

Glycogenolysis and Gluconeogenesis

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154
Q

What two sugars make up sucrose? Comsumption of of can lead to the symptoms of Fructose Intolerance?

A

glucose and fructose

fruit/juice/honey

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155
Q

What rxn does galactokinase catalyze?

A

galactose to galactose-1-phosphate

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156
Q

What product accumulates in Galactokinase Deficiency?

A

galactitol

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157
Q

What is the mode of inheritance of galactokinase deficiency?

A

autosomal recessive

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158
Q

How does Galactokinase Deficiency present in infants?

A

infantile cataracts

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159
Q

What enzyme is absent in Galactosemia?

A

Galactose-1-Uridyltransferase

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160
Q

What rxn does Galactose-1-Uridyltransferase catalyze?

A

galactose-1-phosphate to glucose-1-phosphate

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161
Q

What is the mode of inheritance of Galactosemia?

A

autosomal recessive

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162
Q

What toxic product accumulates during Galactosemia?

A

galactitol

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163
Q

Where does galactitol accumulate in the body during Galactosemia?

A

lens of eye

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164
Q

What two sugars compose lactose?

A

glucose and galactose

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165
Q

What is the mnenomic to remember the enzymes involved with fructose intolerance and galactosemia?

A

FAB GUT

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166
Q

E. coli sepsis in neonates can be indicative of what disease?

A

Galactosemia

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167
Q

What enzyme converts glucose into sorbitol? What reducing equivalent is required?

A

aldose reductase

NADPH

168
Q

What enzyme converts sorbitol into fructose? What is required for an energy equivalent?

A

sorbitol dehydrogenase

NAD+

169
Q

In a patient with hyperglycemia, deficiency of what enzyme can lead to sorbitol causing osmotic damage?

A

sorbitol dehydrogenase

170
Q

What three tissues lack sorbitol dehydrogenase? What tissue primarily only has aldose reductase?

A

Schwann cells, retina and kidney

Lens

171
Q

During a lactase deficiency, will the stool have an increased or decreased pH?

A

decreased pH

172
Q

During a lactase deficiency, will the breath have a higher or lower hydrogen content?

A

higher

173
Q

What amino acids are both ketogenic and glucogenic?

A

Trp, Phe, Thr and Iso

174
Q

What are the two main amino acids of histones?

A

Arg and Lys

175
Q

What is the required cofactor for CPS I?

A

N-acetylglutamate

176
Q

Carbamoyl phosphate combines with what product? What enzyme acts on it? What product is generated?

A

ornithine

OTCase

citrulline

177
Q

In the urea cycle, what enzyme acts on citrulline? What molecules combines with citrulline? What product is formed?

A

Arginosuccinate Synthetase

aspartate

Arginosuccinate

178
Q

In the urea cycle, what enzyme works on arginosuccinate?

A

arginosuccinase

179
Q

In the urea cycle, what is the product of arginosuccinase? What is the by-product?

A

Arginine

Fumarate

180
Q

In the urea cycle, what enzyme degrades arginine? What is the product of this enzyme? What is the byproduct of this enzyme?

A

Arginase

ornithine

urea

181
Q

What two products contribute to the nitrogens of urea?

A

NH3 and aspartate

182
Q

In muscle, amino acids get degraded to what for energy?

A

their corresponding α-ketoacid

183
Q

An amine is added from α-ketoglutarate to produce what product?

A

glutamate

184
Q

What molecule does glutamate give an amine group to? What is created?

A

pyruvate

alanine

185
Q

In the liver, what compound does alanine give an amine to? What two products are formed?

A

α-ketoglutarate

glutamate and pyruvate

186
Q

What TCA cycle intermediate is depleted during hyperammonemia?

A

α-ketoglutarate

187
Q

What two drugs are given to treat urea cycle disorders?

A

benzoate and phenylbutyrate

188
Q

What is the MOA of benzoate and phenylbutyrate?

A

bind amino acids for excretion

189
Q

What anti-convulsant can cause hyperammonemia?>

A

valproic acid

190
Q

What drugs acidifies the GI tract to treat hyperammonemia?

A

lactulose

191
Q

N-acetylglutamate is a required cofactor for what enyme?

A

CPS I

192
Q

An increase in what product would be indicative of an N-acetylglutamate deficiency compared to a CPS-1 deficiency?

A

Ornithine

193
Q

What is the mode of inheritance for OTCase?

A

X-linked recessive

194
Q

In OTCase deficiency, what metabolic intermediate accumulates? What is it converted to?

A

carbamoyl phosphate

orotic acid

195
Q

What enzyme is usually deficient in pt’s with orotic aciduria? What disease can orotic aciduria be indicative of?

A

UMP synthase

megaloblastic anemia

196
Q

Can megaloblastic anemia caused by UMP Synthase deficiency be treated with B12 or Folate?

A

no

197
Q

What rxn does Thymidylate Synthase catalyze?

A

dUMP to dTMP

198
Q

What folate chemistry takes place during Thymidylate Synthase action?

A

N5N10-THF to DHF

199
Q

What drug inhibits Thymidylate Synthase?

A

5-FU

200
Q

What drug inhibits ribonucleotide reductase?

A

hydroxyurea

201
Q

What compound serves as the precursor to melanin synthesis?

A

Dopa

202
Q

What is the cofactor required for Dopamine β-Hydroxylase?

A

Vitamin C

203
Q

What is the amino acid precursor for niacin? What is the necessary cofactor for niacin synthesis?

A

Tryptophan

B6

204
Q

What is the amino acid precursor for serotonin?

A

Trp

205
Q

WHat is the amino acid precursor for melatonin? What product is melatonin synthesized from?

A

Trp

Serotonin

206
Q

What cofactor is required for heme synthesis?

A

B6

207
Q

What are the two precursors for heme synthesis?

A

glycine and succinyl-CoA

208
Q

What amino acid is GABA synthesized from? What vitamin cofactor is required for its synthesis?

A

glutamate

B6

209
Q

What cofactor is required for DOPA decarboxylase?

A

B6

210
Q

What amino acid is glutathione synthesized from?

A

glutamate

211
Q

What three products is Arginine the precursor for?

A

creatine, NO and urea

212
Q

What type of amino acid and type of reaction is BH4/THB required for?

A

aromatic amino acid

hydroxylase

213
Q

What cofactor is required for tyrosine hydroxylase?

A

THB/BH4

214
Q

What amino acid is Homogentisic acid derived from?

A

Tyrosine

215
Q

What enzyme is deficienct in alkaptonuria?

A

homogentistate oxidase

216
Q

What enzyme is deficient in PKU?

A

phenylalanine hydroxylase

217
Q

What enzyme is deficient during albinism?

A

tyrosinase

218
Q

What enzyme does carbidopa inhibit? What neurotransmitter is decreased in its degradation?

A

DOPA decarboxylase

levodopa

219
Q

What acts as the methyl donor for PNMT? What hormone activates this methyl donor?

A

SAM

cortisol

220
Q

What is the metabolic breakdown product of dopamine?

A

homovanillic acid

221
Q

What is the breakdown product of norepinephrine?

A

Normetanephrine

222
Q

What is normetanephrine broken down into?

A

Vanillylmandelic acid

223
Q

What is the breakdown product of epinephrine?

A

metanepinephrine

224
Q

Deficency of what cofactor or enzyme could lead to PKU?

A

Phenylalanine Hydroxylase

THB/BH4

225
Q

Deficiency of what causes malignant PKU?

A

THB/BH4

226
Q

Tyrosine is synthesized from what amino acid precursor?

A

Phe

227
Q

What amino acid becomes essential during PKU?

A

Tyr

228
Q

What are the three phenyl-acids found in the urine of a patient with uncontrolled PKU?

A

phenylacetate, phenyllactate, phenylpyruvate

229
Q

What is the mode of inheritance of PKU?

A

autosomal recessive

230
Q

During PKU, what is the end product of Tyr/Phe metabolism?

A

fumarate

231
Q

What metabolic product will be absent during alkaptonuria?

A

maleylacetoacetic acid

232
Q

What precursor does homocysteine methyltransferase work on? What is the necessary cofactor? What is the product of the rxn?

A

Homocysteine

B12

methionine

233
Q

What is the compound cystathionine synthase acts on? Cofactor? Amino acid required?

A

homocysteine

B6

Serine

234
Q

B12 is necessary for what two enzymes?

A
  1. homocysteine methyltransferase

2. Methylmalonyl-CoA mutase

235
Q

What is the acronym to remember cystinuria?

A

COLA

236
Q

What does COLA stand for?

A

Cysteine

Ornithine

Lysine

Arginine

237
Q

What type of transporter is absent during cystinuria? What are the two locations of this transporter?

A

amino acid transporter

PCT and intestine

238
Q

What is the mode of inheritance for cystinuria?

A

autosomal recessive

239
Q

What is the diagnostic test for cystinuria?

A

cyanide-nitroprusside

240
Q

What two drugs are used to treat cystinuria?

A

potassium citrate and acetozolamide

241
Q

When treating cystinuria, does one try to alkalize or acidify the urine?

A

alkalize

242
Q

MSUD is a result of the decreased breakdown of what amino acids?

A

leucine, isoleucine and valine

243
Q

What enzyme can be defective that would produce MSUD?

A

α-ketoacid dehydrogenase

244
Q

What co-factor could produce a condition that would mimmic MSUD?

A

B1

245
Q

What are the three activtors of glycogen phosphorylase?

A

PKA, Ca2+/CaM and Ca2+

246
Q

What are the effects of PKA on Glycogen Synthase?

A

Inhibitory

247
Q

What type of receptor is the insulin receptor?

A

tyrosine kinase

248
Q

What are the effects of insulin on Glycogen Synthase?

A

activate

249
Q

Do glycogen branches have α(1-4) or α(1-6) bonds?

A

α(1-6)

250
Q

Do glycogen chains have α(1-4) or α(1-6) bonds?

A

α(1-4)

251
Q

What is the product of Glycogen Phosphorylase?

A

G1P

252
Q

What enzyme converts G1P to G6P?

A

phosphoglucomutase

253
Q

In what form is glucose attached to glycogen?

A

UDP-glucose

254
Q

What enzyme synthesizes UDP-glucose from G1P?

A

UDP-glucose pyrophosphorylase

255
Q

What type of GSD is von Gierke Disease? What enzyme is absent?

A

Type I

G6Pase

256
Q

What type of GSD is Pompe Disease? What enzyme is absent? What organ is destroyed by Pompe Disease?

A

Type II

α(1-4)-glucosidase

heart

257
Q

What type of GSD is Cori Disease? What enzyme is absent?

A

Type III

Debranching Enzyme

258
Q

What type of GSD is McArdle? What enzyme is absent? What is the most common tissue affected?

A

Type V

Glycogen Phosphorylase

Muscle

259
Q

What are the three symptoms of McArdle Disease?

A
  1. Myoglobinuria
  2. Painful cramps
  3. Arrhythmia
260
Q

What is the absent enzyme in Fabry Disease? What is the mode of inheritance?

A

α-galactosidase

X-linked Recessive

261
Q

Which LSD presents with Peripheral neuropathy and angiokeratomas?

A

Fabry

262
Q

What product accumulates during Fabry disease?

A

Ceramide Trihexoside

263
Q

What enzyme is deficient in Gaucher’s Disease? What product accumulates?

A

Glucocerebrosidase

Glucocerebroside

264
Q

What is the key phrase regarding Gaucher’s Disease?

A

crumpled tissue paper

265
Q

Which LSD can present with pancytopenia?

A

Gaucher

266
Q

Which LSD can present with aseptic necrosis of the femur?

A

Gaucher Disease

267
Q

What enzyme is deficient in Niemann Pick? What product accumulates?

A

Sphingomyelinase

Sphingomyelin

268
Q

What two disease present with a ‘Cherry Red Spot’ on the macula?

A

Tay-Sachs

Niemann-Pick

269
Q

What enzyme is deficient in Niemann-Pick? What product accumulates?

A

Hexosaminidase A

GM2 gangliosides

270
Q

What enzyme is deficient in Krabbe disease?

A

Galactoscerebrosidase

271
Q

Krabbe disease leads to the inability to produce what structure?

A

myelin

272
Q

Globoid cells are found in what LSD?

A

Krabbe disease

273
Q

What enzyme is deficient in Metachromatic Leukodystrophy? What accumulates?

A

Arylsulfatase

cerebroside sulfate

274
Q

What two products accumulate during Krabbe disease?

A

galactosecerebroside

psychosine

275
Q

What enzyme is responsible for the breakdown of sulftides? What disease?

A

Arylsulfatase

Metachromatic leukodystrophy

276
Q

What enzyme is deficient in Hurler Syndrome?

A

α-Iduronidase

277
Q

What enzyme is deficient in Hunter Syndrome?

A

Iduronate Sulfatase

278
Q

Ashkenazi Jews have an increased risk of what two LSDs?

A

Tay-Sachs and Niemann-Pick

279
Q

Hypoketotic hypoglycemia is indicative of what disease?

A

Carnitine Deficiency

280
Q

What rxn does acetyl-CoA carboxylase?

A

Acetyl-CoA to Malonyl-CoA

281
Q

What are the two main ketone bodies?

A

acetoacetate and β-hydroxybutyrate

282
Q

What ketone body does a urine test not detect?

A

β-hydroxybutyrate

283
Q

What rxn does PEPCK catalyze?

A

OAA into PEP

284
Q

What is the product of HMG-CoA Reductase?

A

Mevalonate

285
Q

What reaction in catalyzed by LCAT?

A

esterification of free cholesterol

286
Q

What cell type contains lipoprotein lipase?

A

vascular endothelial cells

287
Q

In what two locations is lipoprotein lipase found?

A

VLDL and chylomicrons

288
Q

What type of lipoprotein is hepatic lipase found?

A

IDL

289
Q

What tissue type is HSL found?

A

adipose

290
Q

What is the function of CETP?

A

transfer of cholesterol esters and lipids between lipoproteins

291
Q

What is the function of ApoE?

A

remnant uptake

292
Q

Which lipoprotein actiates LCAT?

A

A-I

293
Q

What is the function of ApoC-II?

A

lipoprotein lipase cofactor

294
Q

What is the function of ApoB48?

A

chylomicron secretion

295
Q

What is the function of ApoB100?

A

binds LDL receptor

296
Q

What cell type secretes chylomicrons?

A

intestinal epithelial cells

297
Q

What two diseases can lead to a decrease in the absorption of A, D, E and K?

A

CF and celiac sprue

298
Q

What vitamin prevents squamous metaplasia?

A

A

299
Q

What two diseases are treated with vitamin A?

A

measles and AML

300
Q

Deficiency of what vitamin can lead to alopecia?

A

A

301
Q

What vitamin can be a teratogen?

A

A

302
Q

In what biochemical pathway are the Transketolase enzymes used?

A

HMP Shunt/PPP

303
Q

What vasoactive metabolite causes the flushig symptoms of carcinoid syndrome?

A

bradykinin

304
Q

What is the degradation product of serotonin in the urine?

A

5-HIAA

305
Q

What is the 2nd most common place for a carcinoid tumor to develop?

A

respiratory

306
Q

What cell type do carcinoid tumors arise from?

A

enterochromaffin

307
Q

What are the three symptoms of niacin deficiency?

A

dementia, dermatitis, diarrhea

308
Q

Which B vitamin can cause hyperglycemia?

A

niacin

309
Q

Other than neurotransmitters, what four products require B6 for synthesis?

A

cystathione, heme, histamine and niacin

310
Q

What five neurotransmitters require B6 for synthesis?

A

serotonin, epi, nor-e, dopamine, GABA

311
Q

Deficiency of what vitamin can cause sideroblastic anemia?

A

B6

312
Q

What is the end-product of odd-chain fatty acid degradation?

A

propionyl-CoA

313
Q

What three carboxylation reactions requite biotin?

A
  1. Pyruvate carboxylase
  2. Acetyl-CoA Carboxylase
  3. Propionyl-CoA carboxylase
314
Q

What is the product of propionyl-CoA Carboxylase?

A

methylmalonyl-CoA

315
Q

What is methylmalonyl-CoA converted into? What co-factor is required for this rxn?

A

succinyl-CoA

B12

316
Q

What amino acid would be increased with a THF/B12 deficiency?

A

Homocysteine

317
Q

What would cause an increase in methylmalonic acid, B12 or folate?

A

B12

318
Q

What two rxn’s is B12 required for a cofactor?

A
  1. Homocysteine to methionine

2. methylmalonic acid to succinyl-CoA

319
Q

Other than B12, deficiency of what vitamin can cause Subacute Combied Degeneration of the spinal cord?

A

vitamin E

320
Q

Regarding collagen synthesis, vitamin C is required for what reaction? What amino acids?

A

hydroxylation

proline and lysine

321
Q

What oxidation state does ascorbic acid keep iron from entering?

A

Fe3+

322
Q

What type of kidney stones can excess Vitamin C cause?

A

calcium oxalate

323
Q

What is another name for vitamin D2?

A

ergocalciferol

324
Q

What ions does Vitamin D promote the reabsorption of?

A

calcium and phosphate

325
Q

What vitamin can interfere with the effects of warfarin? Increase or decrease effects of warfarin?

A

E

increase

326
Q

What neurological condition can vitamin E mimmic?

A

Subacute combined syndrome

327
Q

What type of post-translational modification is promoted by Vitamin K in the coagulation cascade? What amino acid?

A

carboxylation

glutamic acid

328
Q

What does thyroxine do to cholesterol levels?

A

increases them

329
Q

What rxn does Galactose-1-phosphate uridyltransferase catalyze? In what disease is the activity of this enzyme severly effected?

A

Galactose-1-phosphate into glucose-1-phosphate

Severe Galactosemia

330
Q

What rxn does Transketolase catalyze?

A

ribulose-5-phosphate into F6P

331
Q

Where is aldolase B located? Aldolase A?

A

B = liver

A = muscle

332
Q

What rxn does pyruvate kinase catalyze?

A

PEP into pyruvate

333
Q

What rxn does citrate synthase catalyze?

A

OAA and Acetyl-CoA into citrate

334
Q

What rxn is catalyzed by phosphoglycerate kinase? What is given off?

A

13bPG to 3-phosphoglycerate

ATP

335
Q

What does insulin do to cAMP/PKA levels?

A

inhibit

336
Q

What does glucagon do to cAMP/PKA levels?

A

increases

337
Q

What does cAMP/PKA do to PFK2 activity? What is the product of PFK2?

A

increase

F26bP

338
Q

What does F26bP do to PFK1 activity?

A

activates PFK1

inhibits F26bPase

339
Q

What is the essential cofactor for Myeloperoxidase?

A

heme

340
Q

What two forms of fructose can Aldolase B work on?

A
  1. F1P

2. F16bP

341
Q

What food can exacerbate a G6PD deficiency?

A

fava beans

342
Q

What three drugs can exacerbate a G6PD deficiency?

A
  1. sulfonamides
  2. primaquine
  3. TB drugs
343
Q

What rxn is catalyzed by Sorbitol Dehydrogenase?

A

sorbitol to fructose

344
Q

Amino acids combine with αKG to form what?

A

glutamate

345
Q

What donates an amine group to ALT?

A

glutamate

346
Q

Orotic aciduria is caused by a defect in what enzyme?

A

UMP synthase

347
Q

What cofactor is required for phenylalanine hydroxylase?

A

THB

348
Q

What cofactor is required for tyrosine hydroxylase?

A

THB

349
Q

What cofactor is necessary to convert Histidine to Histamine?

A

B6

350
Q

What amino acid is used to synthesize NO? WHat cofactorr?

A

Arginine

THB

351
Q

Vanillylmandelic acid is the breakdown product of what two products?

A

Metanephrine

Normetanephrine

352
Q

Homocystinuria can be caused by a deficiency in what two enzymes?

A
  1. Homocysteine Methyltransferase (Methionine Synthase)

2. Cystathionine Synthase

353
Q

MSUD can be caused by a decrease in what B vitamin?

A

B1

354
Q

Optic atrophy is indicative of what lysosomal storage disease?

A

Krabbe

355
Q

What disease features hepatosplenomegaly, Niemann-Pick or Tay-Sachs?

A

Niemann-Pick

356
Q

What disease has corneal clouding, Hunter or Hurler?

A

Hurler

357
Q

Is polyneuritis Dry or Wet BeriBeri?

A

dry

358
Q

Which mediator is responsible for the flushing of niacin?

A

prostaglandins

359
Q

Which hormone can induce a niacin deficiency?

A

oral contraceptives

360
Q

What enzyme induces dissociation of R-Binder from Intrinsic Factor?

A

pancreatic protease

361
Q

Which four amino acids can be converted into Propionyl-CoA?

A

Valine

Threonine

Methionine

Isoleucine

362
Q

Which vitamin can increase the risk of iron toxicity?

A

Vitamin C

363
Q

A lack of what vitamin can present with a hemolytic anemia?

A

E

364
Q

A lack of what metal can produce hypogonadism?

A

zinc

365
Q

A deficiency of what metal may predispose to alcoholic cirrhosis?

A

zinc

366
Q

A deficiency of what metal may predispose to anosmia?

A

zinc

367
Q

A deficiency of what metal may lead to a decrease in adult hair?

A

zinc

368
Q

Which TCA cycle intermediate gets depleted during alcohol consumption?

A

OAA

369
Q

Kwashiorkor is caused by a deficiency of what macro nutrient?

A

protein

370
Q

Why do Kwashiorkor have a fatty liver?

A

decrease apolipoprotein synthesis

371
Q

Marasmus is caused by a deficiency of what macro nutrient?

A

calories

372
Q

Which GLUT transporter is in neurons?

A

GLUT3

373
Q

Does insulin produce a kinase or phosphatase reaction?

A

phosphatase

374
Q

What enzyme is affected by Maturity Onset Diabetes of the Young?

A

Glucokinase

375
Q

How many ATPs are produced during aerobic metabolism?

A

32

376
Q

How many ATPs are produced during anaerobic metabolism?

A

two

377
Q

Which two enzymes of the non-oxidative phase of the HMP shunt is thiamine used for?

A

Transketolase

Phosphopentose isomerase

378
Q

Name the four locations of the HMP Shunt?

A

lactating mammary gland

adrenal cortex

Liver

RBCs

379
Q

Name an enzyme that contains heme

A

Myeloperoxidase

380
Q

Will glucose be found in the urine during Fructose Intolerance? What will be found in the urine?

A

no

reducing sugars

381
Q

What two sugars does a person with Fructose Intolerance need to avoid in their diet?

A

fructose and sucrose

382
Q

Galactosemia may develop by an infant failing to do whatt two things?

A

track objects

social smile

383
Q

Which enzyme converts Galactose into Galactitol?

A

Aldose Reductase

384
Q

Which enzyme re-generates the co-factor needed during Galactosemia?

A

4-Epimerase

385
Q

What rxn is catalyzed by phosphoglucomutase?

A

G6P to G1P

386
Q

Which two amino acids are required during times of growth?

A

arginine and histidine

387
Q

Is homogentisic acid toxic to cartilage?

A

yes

388
Q

What is the end product of the degradation of homogentisic acid degradation?

A

Maleylacetoacetate

389
Q

Which direction do the lenses go during Homocystinuria?

A

down and in

390
Q

What shape are cysteine stones?

A

hexagonal

391
Q

Which has intellectual disabilty, homocystinuria or marfan?

A

homocystinuria

392
Q

Which GSD has severe fasting hypoglycemia?

A

Von Gierke

393
Q

Which GSD can present with lactic acidosis?

A

Von Gierke

394
Q

Which GSD can present with gout?

A

Von gierke

395
Q

What two sugars should be avoided in Von Gierke?

A

fructose and galactose

396
Q

Which GSD has increased glycogen in the liver?

A

Von Gierke

397
Q

Which GSD can produce arrhythmias?

A

McArdle

398
Q

What has hepatosplenomegaly, Tay Sachs or Niemann-Pick?

A

Niemann-Pick

399
Q

Which disease is XLR, Hurler or Hunter?

A

Hunter

400
Q

Which TCA intermediate is depleted during DKA?

A

OAA

401
Q

Do even chain or odd chain FAs contribute to GNG?

A

odd

402
Q

At what day of starvation does adipose tissue begin to supply ketone bodies?

A

three

403
Q

Can RBCs use ketones? Why?

A

no

no mitochondria

404
Q

What is the function of LCAT?

A

to convert cholesterol to cholesterol ester on lipoproteins

405
Q

LPL releases what molecule? From what two locations?

A

free fatty acids

VLDL and chylomicrons

406
Q

Which hormone is responsible for releasing FFAs from adipose tissue?

A

HSL

407
Q

What is the function of CETP?

A

transfer of cholesterol between HDL and other lipoproteins

408
Q

Which apolipoprotein is ApoE not on?

A

LDL

409
Q

Which two apolipoproteins is ApoA found on?

A

chylomicron and HDL

410
Q

What is the function of VLDL?

A

deliver hepatic triglycerides

411
Q

What is the function of LDL?

A

deliver hepatic cholesterol

412
Q

Which apoprotein does alcohol increase the synthesis of?

A

ApoE

413
Q

What dyslipidemia is Type One?

A

Hyperchylomicronemia

414
Q

What is the mode of inheritance for Hyperchylomicronemia?

A

autosomal recessive

415
Q

What two components could be missing during Hyperchylomicronemia?

A

LPL

C-Two

416
Q

What dyslipidemia is Type Two? Mode of inheritance?

A

hypercholesterolemia

AD

417
Q

What dyslipidemia is Type Four? Mode of inheritance?

A

hypertriglyceridemia

AD

First Aid (21 decks)

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