Biochem Flashcards
1
Q
Diseases associated with FA Synthesis/Oxidation
A
Myopathic CAT/CPT deficiencyMedium Chain Acyl-dehydrogenase deficiency
2
Q
What does Aminopeptidase cut?
A
Right of any AA on the amino terminal
3
Q
Hunter’s
A
Iduronidase deficiency XRMilder(MPS II)
4
Q
Diseases associated with Pyruvate Metabolism
A
Pyruvate Dehydrogenase deficiency
5
Q
Peak level
A
4 hours after dose (if too high, decrease dose)
6
Q
RLE Purine Synthesis
A
PRPP Synthase
7
Q
Lateral leg bowing
A
Ricketts
8
Q
RLE Urea Cycle
A
CPS-1
9
Q
Where does the Pro label send stuff to?
A
Golgi
10
Q
Galactosemia
A
Galactose-1-uridyl-transferase deficiency Cataracts MRLiver damage
11
Q
Von Gierke’s
A
Glucose-6-phosphatase deficiency HypoglycemiaHepatosplenomegaly
12
Q
Osteogenesis Imperfecta presentation
A
Shattered bones Blue sclera
13
Q
Diseases associated with Ketone Body Metabolism
A
DKA, Alcoholic Ketoacidosis
14
Q
RLE Glycogenolysis
A
Glycogen Phosphorylase
15
Q
Ketogenic
A
Made from and broken down to Acetyl CoALysine and Leucine
16
Q
Essential FA
A
Linolenic AcidLinoleic Acid
17
Q
First Order Kinetics
A
Constant drug percentage metabolized over timeDependent on concentration
18
Q
Ehlers Danlos presentation
A
Hyperstretchable skinHyperextensible joints
19
Q
Scleroderma presentation
A
Tight skin
20
Q
Anderson’s
A
Branching enzyme deficiencyLong chains of glycogen
21
Q
Nonsense Mutation
A
Early stop codon
22
Q
Lysosomal diseases with gargoyle face
A
Gaucher’s Hurler’s
23
Q
Both Ketogenic and Glucogenic
A
PITTPhenylalanineIsoleucine Threonine Tryptophan
24
Q
Marfan’s presentation
A
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
