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Flashcards in Biochem Deck (147):
1

Diseases associated with FA Synthesis/Oxidation

Myopathic CAT/CPT deficiencyMedium Chain Acyl-dehydrogenase deficiency

2

What does Aminopeptidase cut?

Right of any AA on the amino terminal

3

Hunter's

Iduronidase deficiency XRMilder(MPS II)

4

Diseases associated with Pyruvate Metabolism

Pyruvate Dehydrogenase deficiency

5

Peak level

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

6

RLE Purine Synthesis

PRPP Synthase

7

Lateral leg bowing

Ricketts

8

RLE Urea Cycle

CPS-1

9

Where does the Pro label send stuff to?

Golgi

10

Galactosemia

Galactose-1-uridyl-transferase deficiency Cataracts MRLiver damage

11

Von Gierke's

Glucose-6-phosphatase deficiency HypoglycemiaHepatosplenomegaly

12

Osteogenesis Imperfecta presentation

Shattered bones Blue sclera

13

Diseases associated with Ketone Body Metabolism

DKA, Alcoholic Ketoacidosis

14

RLE Glycogenolysis

Glycogen Phosphorylase

15

Ketogenic

Made from and broken down to Acetyl CoALysine and Leucine

16

Essential FA

Linolenic AcidLinoleic Acid

17

First Order Kinetics

Constant drug percentage metabolized over timeDependent on concentration

18

Ehlers Danlos presentation

Hyperstretchable skinHyperextensible joints

19

Scleroderma presentation

Tight skin

20

Anderson's

Branching enzyme deficiencyLong chains of glycogen

21

Nonsense Mutation

Early stop codon

22

Lysosomal diseases with gargoyle face

Gaucher's Hurler's

23

Both Ketogenic and Glucogenic

PITTPhenylalanineIsoleucine Threonine Tryptophan

24

Marfan's presentation

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

25

Diseases associated with Urea Cycle

CPS deficiencyOrnithine Transcarbamoylase deficiency

26

Western Blot

Protein

27

Pellagra

Niacin (B3) deficiency DiarrheaDermatitisDementiaDeath

28

Gaucher's

Glucocerebrosidase deficiency Wrinkled tissue - crumpled paper macrophageBone pain

29

Albinism

Tyrosinase deficiencyNo tyrosine to melanin

30

Essential Fructosuria

Fructokinase deficiencyExcrete fructose (still have hexokinase)

31

Frameshift Mutation

+/- 1 or 2 bases

32

Kd

Concentration of drug that binds 50% of receptors

33

Essential AA

PVT TIM HALLPhenylalanineValineTryptophan Threonine Isoleucine Methionine Histidine Arginine LysineLeucine

34

Diseases associated with Gluconeogenesis

Von Gierke's

35

Carboxylase

Forms C-C bond using ATP and Biotin

36

Hydrophobic AA

ValineAlanineIsoleucine

37

Noncompetitive Inhibition

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

38

Difference between Heterochromatin and Euchromatin

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

39

Where does the N-terminal sequence send stuff to?

Mitochondria

40

Marasmus

Calorie deficiency SkinnyStarvation

41

RLE Beta-Oxidation

CAT-1

42

Point Mutation

Change in one base

43

Southern Blot

DNA

44

What does Carboxypeptidase cut?

Left of any AA on the carboxy terminal

45

Exothermic reaction

Gives off heat

46

What AAs does Acid Hydrolysis cut?

Asparagine Glutamine

47

Lesch-Nyhan

HGPRT deficiencyGoutNeuropathySelf-mutilation

48

What AAs do Chymotrypsin cut?

PhenylalanineTyrosineTryptophan

49

RLE Gluconeogenesis

Pyruvate Carboxylase

50

Scurvy presentation

Bleeding gums and hair follicles

51

Cori's

Debranching enzyme deficiencyShort branches of glycogen

52

Dehydrogenase

Removes H with cofactor

53

Diseases associated with AA Synthesis/Metabolism

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

54

Galactosuria

Galactokinase deficiency Cataracts

55

Sandhoff's

Hexosaminidase A/B deficiencyWorse

56

Sythase

Consumes 2 substrates

57

Endothermic reaction

Consumes heat

58

N-bond AA

Asparagine Glutamine

59

McArdle's

Muscle phosphorylase deficiencyMuscle cramps with exercise

60

Diseases associated with Lipoprotein Transport/Metabolism

Hyperlipidemias

61

Carnitine Shuttle

FA transport into mitochondria

62

RLE FA Synthesis

Acetyl CoA Carboxylase

63

What AAs do Trypsin cut?

Lysine Arginine

64

What does THF donate methyl groups to?

Nucleotides

65

Epimerase

Differs around 1 chiral carbonGlucose --> Galactose

66

MSUD

Defective metabolism of branched chain AADefect in nephron transport system

67

What is efficacy and what affects it?

Max effect regardless of doseVmax

68

RLE Glycogenesis

Glycogen Sythase

69

Smallest AA

Glycine

70

Most common intracellular buffer

Protein

71

Diseases associated with AA derivatives

AlbinismCarcinoidAcute Intermittent PorphyriaPorphyria Cutanea TardisLead PoisoningHemolytic Anemia UDP Glucoronyl Transferase

72

What does Mercaptoethanol cut?

Right of Cysteine and Methionine

73

Anterior leg bowing

Neonatal syphilis

74

What does Biotin donate methyl groups to?

Carboxylation

75

Disulfide bond making AA

Cysteine Methionine

76

What is potency and what affects it?

Amount of drug needed to produce effectKm

77

Silent Mutation

Change base, codes for same AA

78

Thio

Breaks S bond

79

Diseases associated with Lipid Derivatives

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

80

Hartnup's

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

81

Hurler's

Iduronidase deficiency ARWorse (MPS I)

82

Niemann Pick

Sphingomyelinase deficiency Zebra bodiesOrganomegaly

83

Glucogenic

Made from and broken down to anything but Acetyl CoA

84

What does Elastase cut?

Right of Glycine, Alanine, Serine

85

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

Lysosome

86

AA used to make CYS

Methionine

87

Acidic AA

AspartateGlutamate

88

Isomerase

Same chemical make up but different structureGlucose --> Fructose

89

Minky Kinky Hair presentation

Cu deficiency Hair looks like Cu wire

90

Transition Mutation

Pur --> Pur

91

4 types of Collagen

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

92

Metachromatic Leukodystrophy

Arylsulfatase deficiency Childhood MS

93

O-bond AA

SerineThreonineTyrosine

94

Best AA buffer in the body

Histidine

95

Missense Mutation

Change base, codes for different AA

96

Purines

A, G

97

Kinase

Phosphorylates using ATP

98

Citrate Shuttle

FA transport out of mitochondria

99

Basic AA

Lysine Arginine

100

Most common extracellular buffer

Bicarbonate

101

Diseases associated with Glycogenesis/Glycogenolysis

Von Gierke'sPompe'sCori'sAnderson'sMcArdle's

102

Lyase

Cuts C-C bonds using ATP

103

Takayasu Arteritis presentation

Asian female with very weak pulsesGranulomatous arteritis

104

Pompe's

Alpha-1,4-glucosidase deficiencyCardiac

105

Lysosomal diseases with cherry red spot

Tay Sachs Niemann Pick

106

Branched AA

LeucineIsoleucineValine

107

RLE Cholesterol Synthesis

HMG CoA Reductase

108

Competitive Inhibition

Binds at active site, potency decreases, Km increases

109

Where does the Pre label send stuff to?

ER

110

Krabbe's

Beta-galactosidase deficiencyGloboid bodies NeuropathyEye issues

111

Transversion Mutation

Pur --> Pyr

112

RLE Pyrimidine Synthesis

ASP Transcarbamoylase

113

What AAs do Beta-ME cut?

Cysteine Methionine

114

Transferase

Extrachain movement of sidechain from 1 substrate to another

115

AA causes kinks

Proline

116

Homocysteinuria presentation

Marfanoid Dislocated lens from the top (look down)

117

Northern Blot

RNA

118

Sulfur containing AA

Cysteine Methionine

119

Fructosemia

Aldolase B deficiency Fructose intolertanceLiver damage

120

Diseases associated with Glycolysis

GalactosuriaGalactosemiaFructosuriaFructosemiaPyruvate Kinase deficiency

121

RLE Heme Synthesis

Delta-ala Synthase

122

Tay Sachs

Hexosaminidase A deficiency BlindnessIncoordinationDementiaNO organomegaly

123

Catecholamine making AA

Tyrosine

124

Zero Order Kinetics

Constant drug amount metabolized over timeIndependent of concentration

125

Aromatic AA

PhenylalanineTyrosineTryptophan

126

RLE Ketogenesis

HMG CoA Synthase

127

Phosphorylase

Phosphorylates using Pi

128

Diseases associated with HMP Shunt

G6PD deficiency

129

Trough level

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

130

What does Alpha-1-antitrypsin do?

Inhibit trypsin from getting loose

131

Synthetase

Consumes 2 substrates using ATP

132

Fabry's

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

133

RLE Glycolysis

PFK-1

134

RLE TCA Cycle

Isocitrate Dehydrogenase

135

White diaper crystals

Excess orotic acid

136

Kwashiorkor

Protein deficiency Ascities (big belly)Malabsorption

137

PKU

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

Mutase

Intrachain movement of sidechain from 1 C to another

139

Excitatory for CNS AA

Asparagine

140

Homocystinuria

No homocysteine to cysteine Results in "COLA" stonesCysteineOrnithine LysineArginine

141

Phosphatase

Breaks P bond

142

What AA turns yellow on Nihydrin Reaction?

Proline

143

Half Life (t1/2)

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

144

What does SAM donate methyl groups to?

Everything else (not carboxylation or nucleotides)

145

Pyrimidines

C, U, T

146

EC 50

Concentration of drug that produces 50% of maximal response

147

RLE HMP Shunt

G6PD