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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
What does a Synthase do?
Consumes two substrates
26
What is the rate-limiting enzyme in Gluconeogenesis?
Fructose - 1,6 Bisphophatase
27
What is PKU?
``` No Phe -> Tyr (via decreased Tetrahydrobiopterin Cofactor or decreased Phe Hydroxylase) NutraSweet (Aspartame) sensitivity mental retardation pale blond hair blue eyes musty odor ```
28
What does THF donate methyl groups for?
Nucleotides
29
What causes anterior leg bowing?
Neonatal syphilis
30
What is a frameshift mutation?
Insert or delete any number of bases, not divisible by 3, causes misreading of all downstream nucleotides
31
What are the ketogenic amino acids?
Lys, Leu
32
What are the essential amino acids?
``` Phynlalanine, Valine, Threonine (PVT) Tryptophan, Isoleucine, Methionine (TIM) Histidine, Arginine, Leucine, Lysine (HALL) ```
33
What is the rate-limiting enzyme in Cholesterol syntesis?
HMG CoA Reductase
34
What effects Efficacy?
Vmax
35
What are the glycogenic amino acids?
His, Met, Val
36
What is Potency?
Amount of drug needed to produce effect (lower w/ comp antagonist)
37
What causes lateral leg bowing?
Rickets
38
What is Cystinuria?
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)
39
What does Vit B7 do?
Carboxylation (Avidin in egg whites (raw) binds Biotin)
40
What does a Phosphatase do?
Removes Phosphate from substrate
41
What is the most common extracellular buffer?
Bicarb
42
What is Tay-Sachs?
Hexosaminidase A deficiency Hyperreflexia developmental delay "onion skin" Lysosomes
43
What does a mutase do?
Relocates a functional group within a moleculre (intrachain)
44
What are the Pyrimidines?
C, U, T
45
What does a Kinase do?
Adds Phosphate group to substrate using ATP
46
What is Competitive Inhibition?
Fights for active site, no change in Vmax, potency decreases
47
What is Hartnup's?
No tryptophan-cannot make niacin or seratonin Presents like Pellagra Genetic, not nutritional disorder
48
What is Krabbe's?
``` Galactocerebrosidase deficiency peripheral neuropathy optic atrophy globoid bodies accumulation of Galactocerebroside and Psychosine ```
49
What is the rate-limiting enzyme of Glycolysis?
PFK-1 (Phosphofructokinase-1)
50
What is the rate-limiting enzyme in Pyrimidine synthesis?
Carbamoyl Phosphate Synthetase-2 (CPS-2)
51
What is Kd?
Concentration of drug that binds 50% of receptors
52
What is 1st-order kinetics?
Constant drug percentage metabolism over time depends on drug concentration (rate of elimination is directly proportional to drug concentration)
53
What does a Dehydrogenase do?
Catalyzes Oxidation-Reduction reactions (gaining or losing an electron)
54
What are the essential fatty acids?
Linolenic, Linoleic
55
What does a Carboxylase do?
Transfers CO2 groups with the help of Biotin
56
What does a Galactokinase deficiency cause?
Cataracts
57
What is the Trough level?
2 hours before next dose (too high - give less often)
58
What does a Southern blot detect?
DNA, "Snow, Drop"
59
What does Southwestern blot detect?
DNA-binding Proteins (combines south and western blots)
60
What affects Potency?
Km (EC50)
61
What is the rate-limiting enzyme in Glycogenolysis?
Glycogen Phosphorylase. Occurs in the Cytoplasm of Liver and Muscle
62
What Does Vit E do?
Antioxidant | acts as an tagonist to Vit K in high levels
63
What is a point mutation?
Changes one base
64
What are the acidic amino acids?
Asp, Glu
65
What is Diffusion?
From high to low concentration No ATP
66
What is Gaucher's?
Glucocerebrosidase (Beta-Glucosidase) deficiency wrinkled tissue Macrophage's Bone pain pancytopenia
67
What does Chymotrypsin cut?
Phe, Tyr, Trp
68
What is a transversion?
Changes one purine to a pyrimidine
69
What is the rate-limiting enzyme in Ketogenesis?
HMG CoA Synthase
70
What does Vit B3 do?
NAD cofactor
71
What is Cori's?
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
What does Vit B12 do?
Cofactor for HMT & MMA
73
What amino acid turns yellow on Ninhydrin reaction?
Pro
74
What does Vit B4 do?
Glycolysis, no known diseases
75
What does Ca2+ do?
Neuronal function, atrial depolarization, smooth muscle contractility
76
What is Metachromatic Leukodystrophy?
Arylsulfatase A defieciency childhood multiple sclerosis with Ataxia/Dementia accumulation of Cerebroside Sulfate
77
What does a Hydroxylase do?
Adds-OH group onto substrate
78
What does Zn2+ do?
Taste buds, hair, sperm function
79
What is a silent mutation?
Changes leave the same amino acid
80
What does a Lyase do?
Cuts C-C bonds w/ ATP
81
What are the branched amino acids?
"Can't LIVe w/o them", Leu, Ile, Val
82
What lysosomal diseases have a cherry-red macula?
Tay-sachs, Niemann-Pick
83
What is the rate-limiting enzyme in FA synthesis?
Acetyl-CoA Carboxylase (ACC)
84
What does Vit B6 do?
Transaminase cofactor, myelin integrity
85
What is von Gierke?
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
What is Maple Syrup Urine disease?
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
What is Efficacy?
Maximal effect drug can produce regardless of dose (lower w/ non-competitive antagonist)
88
What is Hurler's?
``` Alph-L-Iduronidase deficiency worse form Gargoylism Corneal clouding accumulation of Heparin and Dermatan Sulfate ```
89
What is Zero-order kinetics?
Metabolism independent of concentration (rate of elimination is constant)
90
What is the difference between Heterochromatin and Euchromatin?
``` Hererochromatin = tightly coiled darker Transcriptionally inactive Euchromatin = loose (10nm fibers) lighter ```
91
What does Vit K do?
Clotting | Synthesized by intestinal flora
92
What does Vit D do?
Mineralization of bones and teeth
93
What does a Synthetase do?
Consumes two substrates, uses ATP
94
What does Mg2+ do?
PTH and kinase cofactor
95
What does Trypsin cut?
Arg, Lys
96
What is the rate-limiting enzyme in Beta Oxidation?
Carnitine Acyltransferase -1 (CAT-1)
97
What is Bronze cirrhosis?
Fe deposit in liver
98
What do white diaper crystals suggest?
Excess Orotic acid
99
What does an epimerase do?
Creates an epimer, which differs around one chiral carbon
100
What is Fructosemia?
"Fructose intolerance" (Aldolase B deficiency) kidney and liver damage occurs in infants after introduction of fruits, honey, and juices
101
What does the Carnitine shuttle do?
FA transport into the mitochondria
102
What are the Purines?
A, G
103
What is Hemosiderosis?
Fe overload in bone marrow
104
What does Galactosemia cause?
Cataracts, mental retardation, liver damage
105
What does a Western blot detect?
Protein, "snoW, droP"
106
What is a nonsense mutation?
Early stop codon
107
What does alpha one anti-trypsin do?
Inhibits Elastase
108
What is Pompe's?
``` 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
What is a transition?
Changes one purine to another purine
110
What is Bronze diabetes?
Fe deposit in pancreas
111
What are the catabolic pathways that create energy? (Occur in the Mitochondria)
``` Acetyl-CoA production, Beta-oxidation, citric acid cycle, Ketogenesis, Oxidative phosphorylation ```
112
What is the rate-limiting enzyme in TCA Cycle?
Isocitrate dehydrogenase
113
What Is Lesch-Nyhan?
``` HGPRT deficiency grout neuropathy self-mutilation Dystonia XLR Prange sand crystals in diaper ```
114
What is the rate-limiting enzyme in Purine synthesis?
Glutamine - PRPP
115
What are the anabolic pathways that store energy? (occur in the cytoplasm)
Fatty acid synthesis, Glycolysis, HMP shunt, translation
116
What does Vit B9 do?
Nuclear division (Synthesis of Nitrogenous bases for RNA and DNA)
117
What are the glycogenic & ketogenic amino acids?
"PITT" Phe, Iso, Thr, Trp
118
What does a Transferase do?
Relocates a functional group from one molecule to another
119
What does SAM donated methyl groups for?
All other reactions
120
What does a Northern blot detect?
RNA, "sNow, dRop"
121
What is the smallest amino acid?
Gly
122
What is Albinism?
No Tyr -> Melanin (via Tyrosinase)
123
What is Hunter's?
``` Iduronate Sulfatase deficiency milder form XLR no corneal clouding aggressive behavior Accumulation of Heparin and Dermatan Sulfate ```
124
What are the basic amino acids?
Lys, Arg, His
125
What is EC50?
Concentration of drug that produces 50% of maximal response
126
What lysosomal diseases have a Gargoyle face?
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
What is Pellagra?
Niacin (B3) deficiency | Dermatitis, Diarrhea, Dementia, Death
128
What is the rate-limiting enzyme in Glycogenesis?
Glycogen Synthase. Occurs in the Cytoplasm of Liver and muscle
129
What is Essential Fructosuria?
Fructokinase deficiency | Excrete fructose in blood/urine (still have hexokinase)
130
What does Vit C do?
Collagen synthesis antioxidant helps absorb FE++, necessary for Dopamine & hydroxylase for NE
131
What does Vit A do?
Night vision, CSF production, PTH cofactor | antioxidants
132
What are the anabolic & catabolic pathways? (Occurs in both Cytoplasm and Mitochondria)
"HUG" Heme synthesis Urea cycle Gluconeogenesis
133
What does Vit B1 do?
Dehydrogenases transketolase (PPP) cofactors
134
What is Anderson's?
Branching enzyme deficiency, | long chains of glycogen
135
What is Niemann-Pick?
Sphingomyelinase deficiency Areflexia Hepatosplenomegaly foam cells (Lipid Laden macrophages)
136
What is Non-competitive Inhibition?
Binds a regulatory site, no change in Km, Efficacy decreases, decreased Vmax
137
What does a Thio do?
Breaks S bonds
138
What are the names of the B vitamins?
``` "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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