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tsomkapQ > Biochemistry > Flashcards

Biochemistry Flashcards

1
Q

What is t1/2?

A

Half-life, the time it takes the body to use half of the drug ingested

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2
Q

What does Cu2+ do?

A

Collagen Synthesis

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3
Q

What is the Isoelectric Point?

A

The pH at which there is no net charge

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4
Q

What is Active Transport?

A

Goes against concentration gradient

Requires ATP

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5
Q

What does an Isomerase do?

A

Creates and isomer

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6
Q

What are the aromatic amino acids?

A

Phe, Tyr, Trp

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7
Q

What is the rate-limiting enzyme in Urea cycle?

A

Carbamoyl Phosphate Synthetase-1 (CPS-1)

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8
Q

What is Bronze pigmentation?

A

Fe deposit in skin

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9
Q

What does Vit B5 do?

A

Part of Acetyl-CoA, no known diseases

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10
Q

What does a Phosphorylase do?

A

Adds inorganic Phosphate to substrate, No ATP used

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11
Q

What is Sandhoff’s?

A

Hexosaminidase A/B deficiency

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12
Q

What does biotin donate methyl groups for?

A

Carboxylation

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13
Q

What are the sulfur-containing amino acids?

A

Cys, Met

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14
Q

What does Vit B2 do?

A

FAD cofactor

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15
Q

What is McArdle’s?

A

GLYCOGEN STORAGE DISEASE
Myophosphorylase deficiency (skeletal muscle Glycogen Phosphorylase)
Increased glycogen in muscle, but muscle cannot break it down
=> painful muscle cramps,
=> myoglobinuria (red urine with strenuous exercise)
And arrhythmia from electrolyte abnormalities
**Second-wind phenomenon (b/c increased muscular blood flow, tired athlete will find renewed energy to exercise harder)

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16
Q

What is Hemochromatosis?

A

Fe deposit in organs

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17
Q

What is Fabry’s

A 
alpha-galactosidase A deficiency
attacks baby's kidneys and heart
XLR
accumulation of Ceramide
Trihexoside
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18
Q

What is Homocystinuria?

A 
No Homocysteine -> Cysteine
(Cystathionine Synthase Deficiency)
or Homocysteine Methyltransferase
(Methionine Synthase) Deficiency or decreased Affinity of Cystathionine Synthase for Pyridoxal Phosphate
Increased Homocysteine in urin
Marfanoid Habitus
downward dislocation of lens
increased risk stroke/MI
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19
Q

What is the rate-limiting enzyme in Heme synthesis?

A

Delta-ALA Synthase

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20
Q

What does Fe2+ do?

A

Hb function, electron transport

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21
Q

What is a missense mutation?

A

Mistaken amino acid substitution (i.e. SS disease Valine for Glutamic Acid)

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22
Q

What is the rate-limiting enzyme in the HMP shunt?

A

Glucose-6-Phosphate Dehydrogenase (G-6PD)

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23
Q

What is the Peak level?

A

4 hours after dose (too high - decrease dose)

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24
Q

What does the Citrate shuttle do?

A

FA transport out of the mitochondria

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25
Q

What does a Synthase do?

A

Consumes two substrates

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26
Q

What is the rate-limiting enzyme in Gluconeogenesis?

A

Fructose - 1,6 Bisphophatase

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27
Q

What is PKU?

A 
No Phe -> Tyr (via decreased Tetrahydrobiopterin Cofactor or decreased Phe Hydroxylase)
NutraSweet (Aspartame) sensitivity
mental retardation
pale
blond hair
blue eyes
musty odor
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28
Q

What does THF donate methyl groups for?

A

Nucleotides

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29
Q

What causes anterior leg bowing?

A

Neonatal syphilis

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30
Q

What is a frameshift mutation?

A

Insert or delete any number of bases, not divisible by 3, causes misreading of all downstream nucleotides

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31
Q

What are the ketogenic amino acids?

A

Lys, Leu

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32
Q

What are the essential amino acids?

A 
Phynlalanine, Valine, Threonine
(PVT)
Tryptophan, Isoleucine, Methionine
(TIM)
Histidine, Arginine, Leucine, Lysine
(HALL)
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33
Q

What is the rate-limiting enzyme in Cholesterol syntesis?

A

HMG CoA Reductase

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34
Q

What effects Efficacy?

A

Vmax

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35
Q

What are the glycogenic amino acids?

A

His, Met, Val

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36
Q

What is Potency?

A

Amount of drug needed to produce effect (lower w/ comp antagonist)

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37
Q

What causes lateral leg bowing?

A

Rickets

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38
Q

What is Cystinuria?

A

Defect of AA transporter in PCT and GIm prevents reabsorption of Cysteine, Ornithine, Lysine, Arginine (COLA)
Hexagonal (Cysteine) stones in urine (urinary Cyanide nitroprusside test is Dx)

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39
Q

What does Vit B7 do?

A

Carboxylation (Avidin in egg whites (raw) binds Biotin)

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40
Q

What does a Phosphatase do?

A

Removes Phosphate from substrate

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41
Q

What is the most common extracellular buffer?

A

Bicarb

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42
Q

What is Tay-Sachs?

A

Hexosaminidase A deficiency
Hyperreflexia developmental delay
“onion skin” Lysosomes

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43
Q

What does a mutase do?

A

Relocates a functional group within a moleculre (intrachain)

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44
Q

What are the Pyrimidines?

A

C, U, T

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45
Q

What does a Kinase do?

A

Adds Phosphate group to substrate using ATP

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46
Q

What is Competitive Inhibition?

A

Fights for active site, no change in Vmax, potency decreases

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47
Q

What is Hartnup’s?

A

No tryptophan-cannot make niacin or seratonin
Presents like Pellagra
Genetic, not nutritional disorder

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48
Q

What is Krabbe’s?

A 
Galactocerebrosidase deficiency
peripheral neuropathy
optic atrophy
globoid bodies
accumulation of Galactocerebroside and Psychosine
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49
Q

What is the rate-limiting enzyme of Glycolysis?

A

PFK-1 (Phosphofructokinase-1)

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50
Q

What is the rate-limiting enzyme in Pyrimidine synthesis?

A

Carbamoyl Phosphate Synthetase-2 (CPS-2)

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51
Q

What is Kd?

A

Concentration of drug that binds 50% of receptors

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52
Q

What is 1st-order kinetics?

A

Constant drug percentage metabolism over time depends on drug concentration (rate of elimination is directly proportional to drug concentration)

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53
Q

What does a Dehydrogenase do?

A

Catalyzes Oxidation-Reduction reactions (gaining or losing an electron)

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54
Q

What are the essential fatty acids?

A

Linolenic, Linoleic

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55
Q

What does a Carboxylase do?

A

Transfers CO2 groups with the help of Biotin

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56
Q

What does a Galactokinase deficiency cause?

A

Cataracts

57
Q

What is the Trough level?

A

2 hours before next dose (too high - give less often)

58
Q

What does a Southern blot detect?

A

DNA, “Snow, Drop”

59
Q

What does Southwestern blot detect?

A

DNA-binding Proteins (combines south and western blots)

60
Q

What affects Potency?

A

Km (EC50)

61
Q

What is the rate-limiting enzyme in Glycogenolysis?

A

Glycogen Phosphorylase. Occurs in the Cytoplasm of Liver and Muscle

62
Q

What Does Vit E do?

A

Antioxidant

acts as an tagonist to Vit K in high levels

63
Q

What is a point mutation?

A

Changes one base

64
Q

What are the acidic amino acids?

A

Asp, Glu

65
Q

What is Diffusion?

A

From high to low concentration No ATP

66
Q

What is Gaucher’s?

A

Glucocerebrosidase (Beta-Glucosidase) deficiency
wrinkled tissue Macrophage’s
Bone pain
pancytopenia

67
Q

What does Chymotrypsin cut?

A

Phe, Tyr, Trp

68
Q

What is a transversion?

A

Changes one purine to a pyrimidine

69
Q

What is the rate-limiting enzyme in Ketogenesis?

A

HMG CoA Synthase

70
Q

What does Vit B3 do?

A

NAD cofactor

71
Q

What is Cori’s?

A

GLYCOGEN STORAGE DISEASE
Debranching, a-1,6 glucosidase enzyme deficiency
short branches of glycogen

milder form than Von Gierke with normal lactate levels
limit-dextrin’s accumulate

72
Q

What does Vit B12 do?

A

Cofactor for HMT & MMA

73
Q

What amino acid turns yellow on Ninhydrin reaction?

A

Pro

74
Q

What does Vit B4 do?

A

Glycolysis, no known diseases

75
Q

What does Ca2+ do?

A

Neuronal function, atrial depolarization, smooth muscle contractility

76
Q

What is Metachromatic Leukodystrophy?

A

Arylsulfatase A defieciency
childhood multiple sclerosis with Ataxia/Dementia
accumulation of Cerebroside Sulfate

77
Q

What does a Hydroxylase do?

A

Adds-OH group onto substrate

78
Q

What does Zn2+ do?

A

Taste buds, hair, sperm function

79
Q

What is a silent mutation?

A

Changes leave the same amino acid

80
Q

What does a Lyase do?

A

Cuts C-C bonds w/ ATP

81
Q

What are the branched amino acids?

A

“Can’t LIVe w/o them”, Leu, Ile, Val

82
Q

What lysosomal diseases have a cherry-red macula?

A

Tay-sachs, Niemann-Pick

83
Q

What is the rate-limiting enzyme in FA synthesis?

A

Acetyl-CoA Carboxylase (ACC)

84
Q

What does Vit B6 do?

A

Transaminase cofactor, myelin integrity

85
Q

What is von Gierke?

A

GLYCOGEN STORAGE DISEASE
G-6 Phosphatase deficiency
severe fasting Hypoglycemia
hepatomegaly/renomegaly (increased glycogen in liver and kidneys)
increased lactase and uric acid levels (=>Gout)

86
Q

What is Maple Syrup Urine disease?

A

Defective metabolism of branched aa (Leu, Iso, Val) -> aa leak out, urine smells like Maple syrup/ burnt sugar, defect of branched chain alpha Keto acid Dehydrogenase

87
Q

What is Efficacy?

A

Maximal effect drug can produce regardless of dose (lower w/ non-competitive antagonist)

88
Q

What is Hurler’s?

A 
Alph-L-Iduronidase deficiency
worse form
Gargoylism
Corneal clouding
accumulation of Heparin and Dermatan Sulfate
89
Q

What is Zero-order kinetics?

A

Metabolism independent of concentration (rate of elimination is constant)

90
Q

What is the difference between Heterochromatin and Euchromatin?

A 
Hererochromatin = tightly coiled
darker
Transcriptionally inactive
Euchromatin = loose (10nm fibers)
lighter
91
Q

What does Vit K do?

A

Clotting

Synthesized by intestinal flora

92
Q

What does Vit D do?

A

Mineralization of bones and teeth

93
Q

What does a Synthetase do?

A

Consumes two substrates, uses ATP

94
Q

What does Mg2+ do?

A

PTH and kinase cofactor

95
Q

What does Trypsin cut?

A

Arg, Lys

96
Q

What is the rate-limiting enzyme in Beta Oxidation?

A

Carnitine Acyltransferase -1 (CAT-1)

97
Q

What is Bronze cirrhosis?

A

Fe deposit in liver

98
Q

What do white diaper crystals suggest?

A

Excess Orotic acid

99
Q

What does an epimerase do?

A

Creates an epimer, which differs around one chiral carbon

100
Q

What is Fructosemia?

A

“Fructose intolerance” (Aldolase B deficiency)
kidney and liver damage
occurs in infants after introduction of fruits, honey, and juices

101
Q

What does the Carnitine shuttle do?

A

FA transport into the mitochondria

102
Q

What are the Purines?

A

A, G

103
Q

What is Hemosiderosis?

A

Fe overload in bone marrow

104
Q

What does Galactosemia cause?

A

Cataracts, mental retardation, liver damage

105
Q

What does a Western blot detect?

A

Protein, “snoW, droP”

106
Q

What is a nonsense mutation?

A

Early stop codon

107
Q

What does alpha one anti-trypsin do?

A

Inhibits Elastase

108
Q

What is Pompe’s?

A 
GLYCOGEN STORAGE DISEASE
Lysosomal a-1, 4-glucosidase deficiency
Die early/young due to heart failure
"Pompe trashes the Pump" (heart, liver, muscle)
exercise intolerance
109
Q

What is a transition?

A

Changes one purine to another purine

110
Q

What is Bronze diabetes?

A

Fe deposit in pancreas

111
Q

What are the catabolic pathways that create energy? (Occur in the Mitochondria)

A 
Acetyl-CoA production, 
Beta-oxidation, 
citric acid cycle, 
Ketogenesis, 
Oxidative phosphorylation
112
Q

What is the rate-limiting enzyme in TCA Cycle?

A

Isocitrate dehydrogenase

113
Q

What Is Lesch-Nyhan?

A 
HGPRT deficiency
grout neuropathy
self-mutilation
Dystonia
XLR
Prange sand crystals in diaper
114
Q

What is the rate-limiting enzyme in Purine synthesis?

A

Glutamine - PRPP

115
Q

What are the anabolic pathways that store energy? (occur in the cytoplasm)

A

Fatty acid synthesis,
Glycolysis,
HMP shunt,
translation

116
Q

What does Vit B9 do?

A

Nuclear division (Synthesis of Nitrogenous bases for RNA and DNA)

117
Q

What are the glycogenic & ketogenic amino acids?

A

“PITT” Phe, Iso, Thr, Trp

118
Q

What does a Transferase do?

A

Relocates a functional group from one molecule to another

119
Q

What does SAM donated methyl groups for?

A

All other reactions

120
Q

What does a Northern blot detect?

A

RNA, “sNow, dRop”

121
Q

What is the smallest amino acid?

A

Gly

122
Q

What is Albinism?

A

No Tyr -> Melanin (via Tyrosinase)

123
Q

What is Hunter’s?

A 
Iduronate Sulfatase deficiency
milder form
XLR
no corneal clouding
aggressive behavior
Accumulation of Heparin and Dermatan Sulfate
124
Q

What are the basic amino acids?

A

Lys, Arg, His

125
Q

What is EC50?

A

Concentration of drug that produces 50% of maximal response

126
Q

What lysosomal diseases have a Gargoyle face?

A

Gaucher’s:
autosomal recessive
glucocerebroside accumulates in white blood cells of organs-macrophages
characterized by bruising, fatigue, anemia and low blood platelet count
enlarged liver/spleen
all due to deficiency of glucocerebrosidase).

Hurler’s
autosomal recessive
coarsening facial features 3-6 months of age-prominent frontal bones, skull elongated
flattened nasal bridge
stop growing by age 2
all due to buildup of glycosaminoglycans, due to alpha-L-iduronidase deficiency

127
Q

What is Pellagra?

A

Niacin (B3) deficiency

Dermatitis, Diarrhea, Dementia, Death

128
Q

What is the rate-limiting enzyme in Glycogenesis?

A

Glycogen Synthase. Occurs in the Cytoplasm of Liver and muscle

129
Q

What is Essential Fructosuria?

A

Fructokinase deficiency

Excrete fructose in blood/urine (still have hexokinase)

130
Q

What does Vit C do?

A

Collagen synthesis
antioxidant
helps absorb FE++, necessary for Dopamine & hydroxylase for NE

131
Q

What does Vit A do?

A

Night vision, CSF production, PTH cofactor

antioxidants

132
Q

What are the anabolic & catabolic pathways? (Occurs in both Cytoplasm and Mitochondria)

A

“HUG”
Heme synthesis
Urea cycle
Gluconeogenesis

133
Q

What does Vit B1 do?

A

Dehydrogenases
transketolase (PPP)
cofactors

134
Q

What is Anderson’s?

A

Branching enzyme deficiency,

long chains of glycogen

135
Q

What is Niemann-Pick?

A

Sphingomyelinase deficiency
Areflexia
Hepatosplenomegaly
foam cells (Lipid Laden macrophages)

136
Q

What is Non-competitive Inhibition?

A

Binds a regulatory site, no change in Km, Efficacy decreases, decreased Vmax

137
Q

What does a Thio do?

A

Breaks S bonds

138
Q

What are the names of the B vitamins?

A 
"The Rich Never Lie about Panning Pyrite Filled Creeks"
Vit B1 = Thiamine
Vit B2 = Riboflavin
Vit B3 = Niacin
Vit B4 = Lipoic acid
Vit B5 = Pantothenic acid
Vit B6 = Pyridoxine
Vit B7 = Biotin
Vit B9 = Folate
Vit B12 = Cobalamin

tsomkapQ (117 decks)

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