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Biochem Flashcards

1
Q

Diseases associated with FA Synthesis/Oxidation

A

Myopathic CAT/CPT deficiencyMedium Chain Acyl-dehydrogenase deficiency

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2
Q

What does Aminopeptidase cut?

A

Right of any AA on the amino terminal

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3
Q

Hunter’s

A

Iduronidase deficiency XRMilder(MPS II)

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4
Q

Diseases associated with Pyruvate Metabolism

A

Pyruvate Dehydrogenase deficiency

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5
Q

Peak level

A

4 hours after dose (if too high, decrease dose)

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6
Q

RLE Purine Synthesis

A

PRPP Synthase

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7
Q

Lateral leg bowing

A

Ricketts

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8
Q

RLE Urea Cycle

A

CPS-1

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9
Q

Where does the Pro label send stuff to?

A

Golgi

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10
Q

Galactosemia

A

Galactose-1-uridyl-transferase deficiency Cataracts MRLiver damage

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11
Q

Von Gierke’s

A

Glucose-6-phosphatase deficiency HypoglycemiaHepatosplenomegaly

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12
Q

Osteogenesis Imperfecta presentation

A

Shattered bones Blue sclera

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13
Q

Diseases associated with Ketone Body Metabolism

A

DKA, Alcoholic Ketoacidosis

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14
Q

RLE Glycogenolysis

A

Glycogen Phosphorylase

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15
Q

Ketogenic

A

Made from and broken down to Acetyl CoALysine and Leucine

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16
Q

Essential FA

A

Linolenic AcidLinoleic Acid

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17
Q

First Order Kinetics

A

Constant drug percentage metabolized over timeDependent on concentration

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18
Q

Ehlers Danlos presentation

A

Hyperstretchable skinHyperextensible joints

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19
Q

Scleroderma presentation

A

Tight skin

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20
Q

Anderson’s

A

Branching enzyme deficiencyLong chains of glycogen

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21
Q

Nonsense Mutation

A

Early stop codon

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22
Q

Lysosomal diseases with gargoyle face

A

Gaucher’s Hurler’s

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23
Q

Both Ketogenic and Glucogenic

A

PITTPhenylalanineIsoleucine Threonine Tryptophan

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24
Q

Marfan’s presentation

A

Wing span longer than heightArachnodactyly Aortic root dilation, aortic aneurysm MVPDislocated lens from the bottom (look up)

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25
Q

Diseases associated with Urea Cycle

A

CPS deficiencyOrnithine Transcarbamoylase deficiency

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26
Q

Western Blot

A

Protein

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27
Q

Pellagra

A

Niacin (B3) deficiency DiarrheaDermatitisDementiaDeath

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28
Q

Gaucher’s

A

Glucocerebrosidase deficiency Wrinkled tissue - crumpled paper macrophageBone pain

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29
Q

Albinism

A

Tyrosinase deficiencyNo tyrosine to melanin

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30
Q

Essential Fructosuria

A

Fructokinase deficiencyExcrete fructose (still have hexokinase)

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31
Q

Frameshift Mutation

A

+/- 1 or 2 bases

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32
Q

Kd

A

Concentration of drug that binds 50% of receptors

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33
Q

Essential AA

A

PVT TIM HALLPhenylalanineValineTryptophan Threonine Isoleucine Methionine Histidine Arginine LysineLeucine

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34
Q

Diseases associated with Gluconeogenesis

A

Von Gierke’s

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35
Q

Carboxylase

A

Forms C-C bond using ATP and Biotin

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36
Q

Hydrophobic AA

A

ValineAlanineIsoleucine

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37
Q

Noncompetitive Inhibition

A

Binds at regulatory site, efficacy decreases, Vmax decreases, Km no change

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38
Q

Difference between Heterochromatin and Euchromatin

A

H = tight (inactive)E = loose (active)

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39
Q

Where does the N-terminal sequence send stuff to?

A

Mitochondria

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40
Q

Marasmus

A

Calorie deficiency SkinnyStarvation

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41
Q

RLE Beta-Oxidation

A

CAT-1

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42
Q

Point Mutation

A

Change in one base

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43
Q

Southern Blot

A

DNA

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44
Q

What does Carboxypeptidase cut?

A

Left of any AA on the carboxy terminal

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45
Q

Exothermic reaction

A

Gives off heat

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46
Q

What AAs does Acid Hydrolysis cut?

A

Asparagine Glutamine

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47
Q

Lesch-Nyhan

A

HGPRT deficiencyGoutNeuropathySelf-mutilation

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48
Q

What AAs do Chymotrypsin cut?

A

PhenylalanineTyrosineTryptophan

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49
Q

RLE Gluconeogenesis

A

Pyruvate Carboxylase

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50
Q

Scurvy presentation

A

Bleeding gums and hair follicles

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51
Q

Cori’s

A

Debranching enzyme deficiencyShort branches of glycogen

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52
Q

Dehydrogenase

A

Removes H with cofactor

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53
Q

Diseases associated with AA Synthesis/Metabolism

A

Hartnup’s, PKU, Alkaptonuria, Homocysteinuria, Cystinuria, MSUD, Propionyl-CoA Carboxylase deficiency, Methylmalonyl-CoA Mutase deficiency

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54
Q

Galactosuria

A

Galactokinase deficiency Cataracts

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55
Q

Sandhoff’s

A

Hexosaminidase A/B deficiencyWorse

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56
Q

Sythase

A

Consumes 2 substrates

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57
Q

Endothermic reaction

A

Consumes heat

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58
Q

N-bond AA

A

Asparagine Glutamine

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59
Q

McArdle’s

A

Muscle phosphorylase deficiencyMuscle cramps with exercise

60
Q

Diseases associated with Lipoprotein Transport/Metabolism

A

Hyperlipidemias

61
Q

Carnitine Shuttle

A

FA transport into mitochondria

62
Q

RLE FA Synthesis

A

Acetyl CoA Carboxylase

63
Q

What AAs do Trypsin cut?

A

Lysine Arginine

64
Q

What does THF donate methyl groups to?

A

Nucleotides

65
Q

Epimerase

A

Differs around 1 chiral carbonGlucose –> Galactose

66
Q

MSUD

A

Defective metabolism of branched chain AADefect in nephron transport system

67
Q

What is efficacy and what affects it?

A

Max effect regardless of doseVmax

68
Q

RLE Glycogenesis

A

Glycogen Sythase

69
Q

Smallest AA

70
Q

Most common intracellular buffer

71
Q

Diseases associated with AA derivatives

A

AlbinismCarcinoidAcute Intermittent PorphyriaPorphyria Cutanea TardisLead PoisoningHemolytic Anemia UDP Glucoronyl Transferase

72
Q

What does Mercaptoethanol cut?

A

Right of Cysteine and Methionine

73
Q

Anterior leg bowing

A

Neonatal syphilis

74
Q

What does Biotin donate methyl groups to?

A

Carboxylation

75
Q

Disulfide bond making AA

A

Cysteine Methionine

76
Q

What is potency and what affects it?

A

Amount of drug needed to produce effectKm

77
Q

Silent Mutation

A

Change base, codes for same AA

78
Q

Thio

A

Breaks S bond

79
Q

Diseases associated with Lipid Derivatives

A

Tay SachsNiemann PickGaucherFabryMetachromatic LeukodystrophyHunter (MPS II)Hurler (MPS I)

80
Q

Hartnup’s

A

Tryptophan deficiency No niacin or serotonin Pellagra-like presentation Corn-rich diet

81
Q

Hurler’s

A

Iduronidase deficiency ARWorse (MPS I)

82
Q

Niemann Pick

A

Sphingomyelinase deficiency Zebra bodiesOrganomegaly

83
Q

Glucogenic

A

Made from and broken down to anything but Acetyl CoA

84
Q

What does Elastase cut?

A

Right of Glycine, Alanine, Serine

85
Q

Where does the Mannose-6-P send stuff to?

86
Q

AA used to make CYS

A

Methionine

87
Q

Acidic AA

A

AspartateGlutamate

88
Q

Isomerase

A

Same chemical make up but different structureGlucose –> Fructose

89
Q

Minky Kinky Hair presentation

A

Cu deficiency Hair looks like Cu wire

90
Q

Transition Mutation

A

Pur –> Pur

91
Q

4 types of Collagen

A

SCABType I: Skin, BoneType II: CT, Aqueous HumorType III: ArteriesType IV: Basement Membrane

92
Q

Metachromatic Leukodystrophy

A

Arylsulfatase deficiency Childhood MS

93
Q

O-bond AA

A

SerineThreonineTyrosine

94
Q

Best AA buffer in the body

95
Q

Missense Mutation

A

Change base, codes for different AA

96
Q

Purines

97
Q

Kinase

A

Phosphorylates using ATP

98
Q

Citrate Shuttle

A

FA transport out of mitochondria

99
Q

Basic AA

A

Lysine Arginine

100
Q

Most common extracellular buffer

A

Bicarbonate

101
Q

Diseases associated with Glycogenesis/Glycogenolysis

A

Von Gierke’sPompe’sCori’sAnderson’sMcArdle’s

102
Q

Lyase

A

Cuts C-C bonds using ATP

103
Q

Takayasu Arteritis presentation

A

Asian female with very weak pulsesGranulomatous arteritis

104
Q

Pompe’s

A

Alpha-1,4-glucosidase deficiencyCardiac

105
Q

Lysosomal diseases with cherry red spot

A

Tay Sachs Niemann Pick

106
Q

Branched AA

A

LeucineIsoleucineValine

107
Q

RLE Cholesterol Synthesis

A

HMG CoA Reductase

108
Q

Competitive Inhibition

A

Binds at active site, potency decreases, Km increases

109
Q

Where does the Pre label send stuff to?

110
Q

Krabbe’s

A

Beta-galactosidase deficiencyGloboid bodies NeuropathyEye issues

111
Q

Transversion Mutation

A

Pur –> Pyr

112
Q

RLE Pyrimidine Synthesis

A

ASP Transcarbamoylase

113
Q

What AAs do Beta-ME cut?

A

Cysteine Methionine

114
Q

Transferase

A

Extrachain movement of sidechain from 1 substrate to another

115
Q

AA causes kinks

116
Q

Homocysteinuria presentation

A

Marfanoid Dislocated lens from the top (look down)

117
Q

Northern Blot

118
Q

Sulfur containing AA

A

Cysteine Methionine

119
Q

Fructosemia

A

Aldolase B deficiency Fructose intolertanceLiver damage

120
Q

Diseases associated with Glycolysis

A

GalactosuriaGalactosemiaFructosuriaFructosemiaPyruvate Kinase deficiency

121
Q

RLE Heme Synthesis

A

Delta-ala Synthase

122
Q

Tay Sachs

A

Hexosaminidase A deficiency BlindnessIncoordinationDementiaNO organomegaly

123
Q

Catecholamine making AA

124
Q

Zero Order Kinetics

A

Constant drug amount metabolized over timeIndependent of concentration

125
Q

Aromatic AA

A

PhenylalanineTyrosineTryptophan

126
Q

RLE Ketogenesis

A

HMG CoA Synthase

127
Q

Phosphorylase

A

Phosphorylates using Pi

128
Q

Diseases associated with HMP Shunt

A

G6PD deficiency

129
Q

Trough level

A

2 hours before dose (if too high, give less often)

130
Q

What does Alpha-1-antitrypsin do?

A

Inhibit trypsin from getting loose

131
Q

Synthetase

A

Consumes 2 substrates using ATP

132
Q

Fabry’s

A

Alpha-galactosidase deficiency X-linkedCorneal clouding Attacks baby’s kidneys

133
Q

RLE Glycolysis

134
Q

RLE TCA Cycle

A

Isocitrate Dehydrogenase

135
Q

White diaper crystals

A

Excess orotic acid

136
Q

Kwashiorkor

A

Protein deficiency Ascities (big belly)Malabsorption

137
Q

PKU

A

Phenylalanine hydroxylase deficiency No phenylalanine to tyrosine - deficient in tyrosine (blonde, blue eyes, fair skin)Build up of phenyl-pyruvate/acetate (musty odor)MRNutrisweet sensitivity

138
Q

Mutase

A

Intrachain movement of sidechain from 1 C to another

139
Q

Excitatory for CNS AA

A

Asparagine

140
Q

Homocystinuria

A

No homocysteine to cysteine Results in “COLA” stonesCysteineOrnithine LysineArginine

141
Q

Phosphatase

A

Breaks P bond

142
Q

What AA turns yellow on Nihydrin Reaction?

143
Q

Half Life (t1/2)

A

Time it takes for the body to use half of the drug ingested

144
Q

What does SAM donate methyl groups to?

A

Everything else (not carboxylation or nucleotides)

145
Q

Pyrimidines

146
Q

EC 50

A

Concentration of drug that produces 50% of maximal response

147
Q

RLE HMP Shunt

PP clues (13 decks)

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