Tom's wagners high yield- biochem Flashcards
1
Q
Orotic Aciduria
A
Deficiency in UMP Synthase–> increased orotic acid in urine and megaloblastic anemia No hyperammonemia (hyperammonemia–>Ornithine Transcarbamolase Deficiency)
2
Q
Lesch-Nyhan Syndrome defect
A
HGPRT deficiency, X-linked recessive
3
Q
3’->5’ exonuclease activity
A
DNA Pol III and I;
4
Q
Defective Endonuclease repair of pyrimidine dimers
A
Increased risk for SqCC, Basal CC, Melanoma
5
Q
Glycosylase (removes altered base)
Endonuclease (5’) then Lyase (3’)
DNA Pol then DNA Ligase
A
repairs spontaneous/toxic deamination of bases
6
Q
I: rRNA, II: mRNA, III:tRNA. toxin?
A
Amantinin (mushroom toxin) inhibits RNA Pol II (mRNA synthesis–>hepatotoxic)
7
Q
5’ Cap, 3’ Polyadenylation, Splicing
A
inital transcript is hnRNA (heterogenous nuclear RNA)
8
Q
P-Bodies
A
contain exonucleases, decapping enzymes, and microRNAs
9
Q
CCA at 3’ end
A
Added as a post-translational modification, ATP used to charge the tRNA
10
Q
75-90 nucleotides, including Dihydrouricil and Pseudouridine. Dihydrouricil use?
A
Dihydrouracil in D arm necessary for binding the correct aminoacyl-tRNA synthase
11
Q
RER-secreted; free ribosomes-cytosolic/organellar found in what cells?
A
Mucus-secreting Goblet cells, Plasma cells, and Chief cells (stomach-pepsinogen) are rich in RER
12
Q
Mannose-6-Phosphate defect?
A
Deficient in I cell disease–lysosomal proteins excreted, coarse facial features, clouded corneas, high plasma lysosomal enzymes, restricted joint movement, can be fatal
13
Q
Kartagener’s Disease defect?
A
dynein arm defect in cilia
14
Q
1/3 of collagen is?
A
Glycine (1/3 of collagen is glycine) . Gly-X-Y
15
Q
RER: what part of collagen sysnthesis?
A
decreases hydroxylation of proline and lysine. Problems w/ formation of triple helix in RER (3 alpha chains)
16
Q
Menkes Disease needs what?
A
Copper is necessary cofactor for Lysyl oxidase–> Crosslinks collagen (extracellular)
17
Q
AutoDom, decreased production of otherwise normal collagen. S/s? Name dz
A
Multiple fx w/ minimal trauma, blue Sclera (due to translucency of collagen over choroidal veins); Hearing loss (abnormal ossicles), and dental imperfections
osterogeneisis imperfecta
18
Q
Faulty Collagen synthesis (6 types)
A
Can involve joint hypermobility, skin hyperextensability (Type 5 collagen)
Berry and Aortic Aneurysms (Type 3 collagen–blood vessels)
19
Q
Southern: DNA; Northern: RNA; West: Protein. SW blot?
A
Southwestern: DNA-binding proteins. need a doubel stranded DNA probe
20
Q
Presence of both normal and mutated mtDNA
A
Results in variable expression of mitochondrially-inherited disease between family members; Disease extent corrolates to the proportion of mutated DNA a person has
21
Q
Uniparental Disomy
A
Two copies of a chromosome from one parent and zero from the other; 25% of Prader Willi Syndrome–>
22
Q
Myotonic Muscular Dystrophy
A
CTG trinucleotide repeats in DMPK gene; Distal Weakness in hands/feet; Type 1 fibers more affected
23
Q
Fragile X Syndrome
A
X linked trinucleotide repeats affecting the METHYLATION of FMR1 gene (fragility only describes in vitro not in vivo);
24
Q
Edwards
A
Trisomy 18
25
Patau
Trisomy 13
26
Cri du chat
Chr 5 short arm deletion
27
Vitamin A def?
Deficiency causes night blindness and immune suppression
28
Pyruvate Dehydrogenase, Transketolase, a-Ketoglutarate Dehydrogenase, Branched-chain Ketoacid Dehydrogenase. All defective in? How to dx?
Deficiency in alcoholics Worsened if you give glucose w/o Thiamine (used for glucose metabolism)
Diagnosis of Deficiency: Increased Transketolase activity in RBC following Thiamine supplement
29
Hartnup disease (dec tryptophan/Neutral AA reabsorption), Carcinoid Syndrome. S/s?
Pellegra-Dermatitis, Diarrhea, Dementia/Ataxia
30
B6 Pyridoxal Phosphate used to make what?
Serotonin, Dopamine, NE, Epinephrine, GABA; (DA to NE requires Vit C)
31
Thymidine is needed for?
Allows for continuation of DNA synthesis (bypasses thymidine synthase)--> stops RBC precursor apoptosis
32
D and K usually present with?
Also low in iron
33
Decreased Vitamin K causes? (In babies)
Neonatal Hemorrhage (high suspicion if birth not at a hospital-- no Vitamin K shot)--same reason why Warfarin is not used in 3rd trimester despite what they said in class
34
drugs that inhibit?
Alcohol:
Acetaldehyde:
Alcohol: Fomepizole
Acetaldehyde: Disulfiram
Fomepizole used to prevent toxicity w/ ethylene glycol or methanol poisoning
35
Vitamin E def?
Also causes hemolytic anemia with ancanthocytosis
36
Glucokinase function?
Glucokinase is key for glucose-sensing in the pancreatic Beta cell
37
Vit B1, B2, B3, B5, and Lipoic acid
Same Cofactors as alpha-Ketoglutarate Dehydrogenase
38
Lipoic Acid inhibitor?
arsenic:Causes vomiting, rice-water stools, and garlic-breath
39
Lysine and Leucine or high fat diet... are what kind of AA?
only purely ketogenic amino acids
40
Complex 4 of ETC?
(Cytochrome C Oxidase): Decrease protein gradient and block ATP synthesis
41
Uncoupling agents?
Allow H+ to pass through and consumes O2 w/o ATP synthesis--> heat generation; Aspirin. 2,4- Dinitrophenol
thermogenin in brown fat.
42
Myeloperoxidase color?
blue-green heme containing pigment
43
Fructose Intolerance defect?
Deficiency of Aldolase B (Auto rec), accumulation of Fructose-1-p causes decreased phosphate, which inhibits glycogenolysis and gluconeogenesis
44
Negative in fructosuria/fructose intolerance-->
glucose, instead, test for reducing sugars (included fructose)
45
aldolase B defect
Fructose-1-P is converted by Aldolase B to DHAP and Glyceraldehyde (triose kinase to G3P)
46
Galactokinase Deficiency
accumulation of Galactitol due action of Aldolase reductase on galactose
47
Classic Galactosemia
Defect in Galactose-1-P Uridyltransferase-->accumulation of galactitol and depletion of phosphate
48
E. coli Sepsis
Deficiency of Galactose-1-P Uridyltransferase
49
Sorbitol Dehydrogenase ?
| Aldolase reductase?
Sorbitol to Fructose
| Glucose is converted to osmotically active sorbitol via Aldolase Reductase
50
Decreased stool pH and increased breath Hydrogen
Osmotic diarrhea, bloating, flatulance. Lactase def.
51
Arginine and Lysine are needed for? chanrge?
Basic AA that bind the negatively charged DNA--> Histidine is also basic
52
Arginine forms via....?
via Arginase (produces urea and reforms ornithine)
53
Alpha Ketoglutarate is converted to? (Outside of the TCA cycle)
converted to Glutamate; Lactulose is used to remove excess NH4 (diarrheal that acidifies the GI)
54
Carbamoyl Phostphate Synthase I def?
Leads to hyperammonemia and Increased Ornithine
55
Ornithine Transcarbamylase Deficiency
X-linked recessive, often evident in first few days of life: Increased Orotic Acid, Decreased BUN, Hyperamonemia symptoms (Kernicterus, somnolence, vomiting, cerebral edema
56
Orotic Aciduria
deficiency of UMP Synthase, Megaloblastic anemia NOT treated with folate or vit B12 supplement
57
Malignant PKU
Deficiency in Dihydrobiopterin Reductase;
58
Prolactin inhibitor?
Tetrahydrobiopterin is also cofactor for Tyrosine hydroxylase--> decreased activity causes decreased DOPA, which causes decreased Dopamine, which removes inhibiton of prolactin secretion
59
GABA synthesis requires?
requires pyridoxal phosphate (B6)
60
PNMT
Requires cortisol and SAM
61
Metabolites?
NE/Epi:
DA
NE/Epi: Vanillylmandelic Acid;
DA: Homovanillic acid
NE is first broken down to Normetanephrine, Epi to metanephrine by COMT
62
Alkaptonuria
Deficiency of Homogenisate oxidase--> accumulation of homogentisic acid and failure to breakdown tyrosine to Fumarate. Black urine.
63
Homocystinuria
Due to Deficiency of either: MethionineCystathionine-->Cysteine
- Cystathionine Synthase -->supplement with inc cysteine, B6/pyridoxine, and dec methionine
- Homocysteine Methyltransferase (Methionine Synthase) Deficiency -- inc methionine in diet
64
Cystinuria
Hereditary defect in Renal Proximal tubule and intestinal reaborption of Cysteine, Ornithine, Lysine, and Arginine
65
Maple Syrup Urine Disease
Deficiency in Alpha-Ketoacid Dehydrogenase (uses thiamine)-->blocks degradation of Branched amino acids (Valine, Leucine, Isoleucine); Isoleucine causes burnt sugar urine smell
66
Pompe Disease (Type II)
Deficiency in Lysosomal a-1,4-glucosidase (acid maltase)
67
McArdle Disease (Type V)
Deficiency in Myophosphorylase (skeletal muscle glycogen phosphorylase)
68
Cori Disease (Type III)
Deficiency in Debranching enzyme (a-1,6-glucosidase)
69
Gaucher's Disease
Most common LSD, Gaucher cells (lipid-laden macrophages that look like crumpled paper)
Glucocerbrosidase deficiency-->accumulation of Glucocerebroside
70
both have neurodegeneration and cherry red spots on macula.
Neeman Pick (hepatosplenomegaly) and Tay-Sacs
71
Krabbe Disease
Large macrophages filled with Galactocerebroside (Galactocerebrosidase deficiency)
72
Metachromatic Leukodystrophy
Arylsulfatase deficiency and accumulation of cerebroside sulfate
73
Hunters is X linked, no corneal clouding, aggressive
both accumulate Heparan sulfate and dermatan sulfate, have gargoylism and developmental delay
74
Carnitine Deficiency/Acyl-CoA Dehydrogenase deficiency
Carnitine is needed to transport Long Chain FA into the mitochondria
75
4kcal/g to fat and EtOH?
Fat generates 9kcal/g, alchohol 7kcal/g
76
ApoB-100 binds?
binds LDL receptor
77
Pancreatitis and abdominal pain. defect in?
Deficiency in Lipoprotein lipase or ApoCII; No increased risk for Atherosclerosis
78
Tendenous Xanthomas (Achilles). defect in?
AutoDom defect in LDL receptor; very accelerated atherosclerosis
79
Acetyl-CoA converts to?
converts pyruvate to oxaloacetate for gluconeogenesis
80
Protein Phosphatase 1 does what?
Increases glycogen synthase and decreases glucose release
81
Desmoplasia. give ex
Ex Linitis Plastica in diffuse-type gastric adenocarcinoma
82
Neural Crest derivatives
Melanomas, schwannomas, Histocytosis
83
Michaelis Menton shape?
To have Michaelis-Menton Kinetics, an enzyme must have a hyperbolic curve
84
Phenylalanine Hydroxylase, Tyrosine Hydroxylase, and Tryptophan Hydroxylase all need what?
Malignant PKU will decrease activity of all 3 due to deficient Dihydrobiopterin reductase
85
Cystic Fibrosis. Repro issue?
Azoospermia
86
Colostrum contains?
Contains IgA
87
Liver (hepatocytes) and Fe reg?
Liver produces Hepcidin, which downregulates and inhibits ferroportin in intestinal epithelial cells
88
Downregulates GABA and upregulates NMDA predisposes you to?
Predisposes to seizure w/ withdrawal due to decreased GABA (inhibitory) and increased NMDA (excitatory)
89
Kidney during hypoxia secretes?
Secretes EPO
90
Acyl-CoA Dehydrogenase def?
Deficiency of Beta oxidation, preventing ketone body formation w/ low glucose
91
Urine Deoxypyridinoline excretion
collagen cross linker
92
Lateral-? Ventromedial-?
reg by?
Lateral-hunger, Ventromedial-Satiety
Leptin inhibits the lateral area and stimulates the ventromedial area
93
Suprachiasmatic nucleus helps with?
Helps to overcome jet-lag
94
In Ovary: ooycte?
| After Ovulation: oocyte?
In Ovary: Prophase Meiosis I
After Ovulation: Metaphase Meiosis 2
Primary Ooocyte, 2N 4C
Secondary Oocyte 1N 2C
95
Carboxylase reactions
Pyruvate carboxylase and conversion of Propionyl-CoA to methylmalonyl-CoA
96
Nitroblue Tetrazolium test
Tests for NADPH activity
97
Perforin/Granzyme & expression of FasL second signal?
IL-2 from TH1 cells is secondary signal
98
Disorders of fibrinolysis have normal platelet counts and No increased D-dimers
Fibrinogen split products are elevated (not D-dimers b/c there are no clots so no cross-linked fibrin;
PT,PTT, and bleeding time elevated in both
99
Radical prostatectomy leads to?
Leads to release of urokinase (activates plasmin); TX w/ aminocaproic acid
100
Thrombomodulin
Thrombomodulin is a co factor for Protein C which leads to anti-coag.
Endothelial cells also block subendothelial collagen, release Prostacyclin, Heparin-like molecules, and tPA
101
Vitamin B6/pyridoxine def?
B6 deficiency (nutrition or Isoniazid) or lead poisoning cause acquired sideroblastic anemia
102
metabisulfite is positive in?
Positive in both SCD and SCTrait
103
Lymphocytes are high during?
Lymphocytosis promoting factor; Viruses also increase lymphocytes
104
Tdt is a what in the cell?
DNA polymerase
105
OriT to tra get...?
Genes closer to OriT get transferred more
106
Sqrt(prevalence/4) =?
1/4 kid gets disease, square root gives carrier rate
107
Mitral valve prolapse assocaited with?
Also long face, large/everted ears and huge balls
Fragile x, (classic: marfans)
108
Acetazolamide does what to urine? what type of stones?
Alkalyzes the urine, urate crystals only at acidic pH
109
Benzoate and phenylbutryate uses?
used in hyperammonemia and urea cycle deficiencies to allow NH3 excretion
110
hereditary N-acetylglutamate deficiency
TX w/ carbamoyl glutamate, necessary corfactor for Carbamoyl Phosphate Synthase 1
111
Homocystinuria s/s
Intellectual disability, osteoporosis, lens subluxation, tall, kyphosis, thrombosis/atherosclerosis
112
RNAaseL and Protein Kinase function?
Shut down both viral and host cell protein synthesis to prevent bacteria spread.w/ dsRNA present
upreg bya INF alpha and beta
113
TCR, CD4, CD3, CD40L, CD28- found on?
all CD4 T cell
| CD40L activates B cells and is not on CD8 Tcells
114
CD16, CD56- found on?
CD16 bings Fc region of IgG
NK cells
115
Increase CO and decrease RAP
CO curve shifted up, venous return curve does not move
116
Increased CO and increased RAP
CO curve does not move, VR curve shifted to the right
117
Decreased CO and no change in RAP
CO curve shifted down (due to inc afterload), VR curve Rotated counterclockwise (due to inc TPR)
118
LDL
LDL=CH-HDL-VLDL; VLDL is calculated as TG/5, so if not, fasting, TG will be high making LDL artificially low; If TG>400, LDL measured directly
119
Parietal cell Receptors for regulation?
Ach & Gastrin-- Gq
Histamine--Gs
Prostaglandins and Somatostatin -- Gi
Ca/IP3 and cAMP increase the H+/K+ ATPase on the luminal membrane
120
Gastrin inhibitors?
Ach by Atropine; Histamine by Ranitidine/Cimetidine/Famotidine
121
H+ out of the cell (secondary active transport) prevents?
Adding H+ prevents bacterial efflux of drugs
122
- Increased gland tortuosity and secretion
- Edema of stromal cells
mediated via?
Progesterone mediated
123
Theca Interna
seceretes androgens
NOT in Theca Externa (structural support only)
124
TRH and prolactin relationship?
Primary/Secondary hypothyroidism can cause galactorrhea
125
Plasma cells in the spleen
Increased mature megakaryocytes on BM biopsy
126
Antithrombin III deficiency causes?
Genetic or Nephrotic Syndrome
127
B6/Pyridoxine and B3/Niacin relationship?
B6 is necessary for Niacin synthesis
128
Hepatoduodenal lig contains?
Contains the portal triad--Portal vein, hepatic artery, common bile duct
129
Short Gastric supplies?
supply the fundus of stomach off splenic artery
130
```
Metanephric Mesenchyme gives?
Ureteric Bud (from mesonephric duct) gives?
```
- ->Glomerulus to distal tubule
| - ->Collecting duct to Ureter
131
Uretopelvic junction are due to the fact that?
Last to canalize
132
Juxtaglomerular apparatus
Release renin in response to B1 stimulus, low renal perfusion, and low NaCl to macula densa
133
D2 R?
GiPCR
134
Form Nitrous Oxide which activates guanalyl cylase, which increases cGMP which causes?
Increased cGMP causes dephosphorylation of myosin light chain kinase
135
Acidic aa on hitones?
| Basic AA on histones?
Arginine and Lysine are enriched in histones (bind negatively charged DNA)
Acidic: Aspartate and Glutamate
Basic: Arginine, Lysine, and Histidine
136
Vit C, Copper, Zinc. needed for?
Vit C- Proline/Lysine Hydroxylase; Copper- Lysyl Oxidase; Zinc- Collagenase (type 3 to 1)
137
Weeks after a hemolytic episode
Otherwise only cells w/ the enzyme will be left (need cells beyond G6PD's half life)
138
Thyroid Hormone
Hypothyroidism-->Hypercholesterolemia due to decreased LDL receptors
Hyperthyroidism-->Hypocholesterolemia due to increased LDL receptors
139
Congenital Pharyngo-cutaneous fistula?
fistula between the tonsillar area and lateral neck
140
Treacher-Collins syndrome s/s
mandibular hypoplasia and facial abnormalities
141
Vitamin A
Deficiency causes night blindness and immune suppression
142
Pyruvate Dehydrogenase, Transketolase, a-Ketoglutarate Dehydrogenase, Branched-chain Ketoacid Dehydrogenase
Deficiency in alcoholics Worsened if you give glucose w/o Thiamine (used for glucose metabolism)
Diagnosis of Deficiency: Increased Transketolase activity in RBC following Thiamine supplement
143
Thyroid Hormone
Hypothyroidism-->Hypercholesterolemia due to decreased LDL receptors
Hyperthyroidism-->Hypocholesterolemia due to increased LDL receptors
144
Congenital Pharyngo-cutaneous fistula
fistula between the tonsillar area and lateral neck
145
Treacher-Collins syndrome
mandibular hypoplasia and facial abnormalities
