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)

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2
Q

Lesch-Nyhan Syndrome defect

A

HGPRT deficiency, X-linked recessive

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3
Q

3’->5’ exonuclease activity

A

DNA Pol III and I;

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4
Q

Defective Endonuclease repair of pyrimidine dimers

A

Increased risk for SqCC, Basal CC, Melanoma

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5
Q

Glycosylase (removes altered base)
Endonuclease (5’) then Lyase (3’)
DNA Pol then DNA Ligase

A

repairs spontaneous/toxic deamination of bases

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6
Q

I: rRNA, II: mRNA, III:tRNA. toxin?

A

Amantinin (mushroom toxin) inhibits RNA Pol II (mRNA synthesis–>hepatotoxic)

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7
Q

5’ Cap, 3’ Polyadenylation, Splicing

A

inital transcript is hnRNA (heterogenous nuclear RNA)

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8
Q

P-Bodies

A

contain exonucleases, decapping enzymes, and microRNAs

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9
Q

CCA at 3’ end

A

Added as a post-translational modification, ATP used to charge the tRNA

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10
Q

75-90 nucleotides, including Dihydrouricil and Pseudouridine. Dihydrouricil use?

A

Dihydrouracil in D arm necessary for binding the correct aminoacyl-tRNA synthase

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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

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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

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13
Q

Kartagener’s Disease defect?

A

dynein arm defect in cilia

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14
Q

1/3 of collagen is?

A

Glycine (1/3 of collagen is glycine) . Gly-X-Y

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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)

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16
Q

Menkes Disease needs what?

A

Copper is necessary cofactor for Lysyl oxidase–> Crosslinks collagen (extracellular)

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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

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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)

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19
Q

Southern: DNA; Northern: RNA; West: Protein. SW blot?

A

Southwestern: DNA-binding proteins. need a doubel stranded DNA probe

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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

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21
Q

Uniparental Disomy

A

Two copies of a chromosome from one parent and zero from the other; 25% of Prader Willi Syndrome–>

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22
Q

Myotonic Muscular Dystrophy

A

CTG trinucleotide repeats in DMPK gene; Distal Weakness in hands/feet; Type 1 fibers more affected

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23
Q

Fragile X Syndrome

A

X linked trinucleotide repeats affecting the METHYLATION of FMR1 gene (fragility only describes in vitro not in vivo);

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24
Q

Edwards

A

Trisomy 18

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25
Q

Patau

A

Trisomy 13

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26
Q

Cri du chat

A

Chr 5 short arm deletion

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27
Q

Vitamin A def?

A

Deficiency causes night blindness and immune suppression

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28
Q

Pyruvate Dehydrogenase, Transketolase, a-Ketoglutarate Dehydrogenase, Branched-chain Ketoacid Dehydrogenase. All defective in? How to dx?

A

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

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29
Q

Hartnup disease (dec tryptophan/Neutral AA reabsorption), Carcinoid Syndrome. S/s?

A

Pellegra-Dermatitis, Diarrhea, Dementia/Ataxia

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30
Q

B6 Pyridoxal Phosphate used to make what?

A

Serotonin, Dopamine, NE, Epinephrine, GABA; (DA to NE requires Vit C)

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31
Q

Thymidine is needed for?

A

Allows for continuation of DNA synthesis (bypasses thymidine synthase)–> stops RBC precursor apoptosis

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32
Q

D and K usually present with?

A

Also low in iron

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33
Q

Decreased Vitamin K causes? (In babies)

A

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

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34
Q

drugs that inhibit?
Alcohol:
Acetaldehyde:

A

Alcohol: Fomepizole
Acetaldehyde: Disulfiram

Fomepizole used to prevent toxicity w/ ethylene glycol or methanol poisoning

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35
Q

Vitamin E def?

A

Also causes hemolytic anemia with ancanthocytosis

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36
Q

Glucokinase function?

A

Glucokinase is key for glucose-sensing in the pancreatic Beta cell

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37
Q

Vit B1, B2, B3, B5, and Lipoic acid

A

Same Cofactors as alpha-Ketoglutarate Dehydrogenase

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38
Q

Lipoic Acid inhibitor?

A

arsenic:Causes vomiting, rice-water stools, and garlic-breath

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39
Q

Lysine and Leucine or high fat diet… are what kind of AA?

A

only purely ketogenic amino acids

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40
Q

Complex 4 of ETC?

A

(Cytochrome C Oxidase): Decrease protein gradient and block ATP synthesis

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41
Q

Uncoupling agents?

A

Allow H+ to pass through and consumes O2 w/o ATP synthesis–> heat generation; Aspirin. 2,4- Dinitrophenol
thermogenin in brown fat.

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42
Q

Myeloperoxidase color?

A

blue-green heme containing pigment

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43
Q

Fructose Intolerance defect?

A

Deficiency of Aldolase B (Auto rec), accumulation of Fructose-1-p causes decreased phosphate, which inhibits glycogenolysis and gluconeogenesis

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44
Q

Negative in fructosuria/fructose intolerance–>

A

glucose, instead, test for reducing sugars (included fructose)

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45
Q

aldolase B defect

A

Fructose-1-P is converted by Aldolase B to DHAP and Glyceraldehyde (triose kinase to G3P)

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46
Q

Galactokinase Deficiency

A

accumulation of Galactitol due action of Aldolase reductase on galactose

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47
Q

Classic Galactosemia

A

Defect in Galactose-1-P Uridyltransferase–>accumulation of galactitol and depletion of phosphate

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48
Q

E. coli Sepsis

A

Deficiency of Galactose-1-P Uridyltransferase

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49
Q

Sorbitol Dehydrogenase ?

Aldolase reductase?

A

Sorbitol to Fructose

Glucose is converted to osmotically active sorbitol via Aldolase Reductase

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50
Q

Decreased stool pH and increased breath Hydrogen

A

Osmotic diarrhea, bloating, flatulance. Lactase def.

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51
Q

Arginine and Lysine are needed for? chanrge?

A

Basic AA that bind the negatively charged DNA–> Histidine is also basic

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52
Q

Arginine forms via….?

A

via Arginase (produces urea and reforms ornithine)

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53
Q

Alpha Ketoglutarate is converted to? (Outside of the TCA cycle)

A

converted to Glutamate; Lactulose is used to remove excess NH4 (diarrheal that acidifies the GI)

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54
Q

Carbamoyl Phostphate Synthase I def?

A

Leads to hyperammonemia and Increased Ornithine

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55
Q

Ornithine Transcarbamylase Deficiency

A

X-linked recessive, often evident in first few days of life: Increased Orotic Acid, Decreased BUN, Hyperamonemia symptoms (Kernicterus, somnolence, vomiting, cerebral edema

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56
Q

Orotic Aciduria

A

deficiency of UMP Synthase, Megaloblastic anemia NOT treated with folate or vit B12 supplement

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57
Q

Malignant PKU

A

Deficiency in Dihydrobiopterin Reductase;

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58
Q

Prolactin inhibitor?

A

Tetrahydrobiopterin is also cofactor for Tyrosine hydroxylase–> decreased activity causes decreased DOPA, which causes decreased Dopamine, which removes inhibiton of prolactin secretion

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59
Q

GABA synthesis requires?

A

requires pyridoxal phosphate (B6)

60
Q

PNMT

A

Requires cortisol and SAM

61
Q

Metabolites?
NE/Epi:
DA

A

NE/Epi: Vanillylmandelic Acid;
DA: Homovanillic acid

NE is first broken down to Normetanephrine, Epi to metanephrine by COMT

62
Q

Alkaptonuria

A

Deficiency of Homogenisate oxidase–> accumulation of homogentisic acid and failure to breakdown tyrosine to Fumarate. Black urine.

63
Q

Homocystinuria

A

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
Q

Cystinuria

A

Hereditary defect in Renal Proximal tubule and intestinal reaborption of Cysteine, Ornithine, Lysine, and Arginine

65
Q

Maple Syrup Urine Disease

A

Deficiency in Alpha-Ketoacid Dehydrogenase (uses thiamine)–>blocks degradation of Branched amino acids (Valine, Leucine, Isoleucine); Isoleucine causes burnt sugar urine smell

66
Q

Pompe Disease (Type II)

A

Deficiency in Lysosomal a-1,4-glucosidase (acid maltase)

67
Q

McArdle Disease (Type V)

A

Deficiency in Myophosphorylase (skeletal muscle glycogen phosphorylase)

68
Q

Cori Disease (Type III)

A

Deficiency in Debranching enzyme (a-1,6-glucosidase)

69
Q

Gaucher’s Disease

A

Most common LSD, Gaucher cells (lipid-laden macrophages that look like crumpled paper)
Glucocerbrosidase deficiency–>accumulation of Glucocerebroside

70
Q

both have neurodegeneration and cherry red spots on macula.

A

Neeman Pick (hepatosplenomegaly) and Tay-Sacs

71
Q

Krabbe Disease

A

Large macrophages filled with Galactocerebroside (Galactocerebrosidase deficiency)

72
Q

Metachromatic Leukodystrophy

A

Arylsulfatase deficiency and accumulation of cerebroside sulfate

73
Q

Hunters is X linked, no corneal clouding, aggressive

A

both accumulate Heparan sulfate and dermatan sulfate, have gargoylism and developmental delay

74
Q

Carnitine Deficiency/Acyl-CoA Dehydrogenase deficiency

A

Carnitine is needed to transport Long Chain FA into the mitochondria

75
Q

4kcal/g to fat and EtOH?

A

Fat generates 9kcal/g, alchohol 7kcal/g

76
Q

ApoB-100 binds?

A

binds LDL receptor

77
Q

Pancreatitis and abdominal pain. defect in?

A

Deficiency in Lipoprotein lipase or ApoCII; No increased risk for Atherosclerosis

78
Q

Tendenous Xanthomas (Achilles). defect in?

A

AutoDom defect in LDL receptor; very accelerated atherosclerosis

79
Q

Acetyl-CoA converts to?

A

converts pyruvate to oxaloacetate for gluconeogenesis

80
Q

Protein Phosphatase 1 does what?

A

Increases glycogen synthase and decreases glucose release

81
Q

Desmoplasia. give ex

A

Ex Linitis Plastica in diffuse-type gastric adenocarcinoma

82
Q

Neural Crest derivatives

A

Melanomas, schwannomas, Histocytosis

83
Q

Michaelis Menton shape?

A

To have Michaelis-Menton Kinetics, an enzyme must have a hyperbolic curve

84
Q

Phenylalanine Hydroxylase, Tyrosine Hydroxylase, and Tryptophan Hydroxylase all need what?

A

Malignant PKU will decrease activity of all 3 due to deficient Dihydrobiopterin reductase

85
Q

Cystic Fibrosis. Repro issue?

A

Azoospermia

86
Q

Colostrum contains?

A

Contains IgA

87
Q

Liver (hepatocytes) and Fe reg?

A

Liver produces Hepcidin, which downregulates and inhibits ferroportin in intestinal epithelial cells

88
Q

Downregulates GABA and upregulates NMDA predisposes you to?

A

Predisposes to seizure w/ withdrawal due to decreased GABA (inhibitory) and increased NMDA (excitatory)

89
Q

Kidney during hypoxia secretes?

A

Secretes EPO

90
Q

Acyl-CoA Dehydrogenase def?

A

Deficiency of Beta oxidation, preventing ketone body formation w/ low glucose

91
Q

Urine Deoxypyridinoline excretion

A

collagen cross linker

92
Q

Lateral-? Ventromedial-?

reg by?

A

Lateral-hunger, Ventromedial-Satiety

Leptin inhibits the lateral area and stimulates the ventromedial area

93
Q

Suprachiasmatic nucleus helps with?

A

Helps to overcome jet-lag

94
Q

In Ovary: ooycte?

After Ovulation: oocyte?

A

In Ovary: Prophase Meiosis I
After Ovulation: Metaphase Meiosis 2

Primary Ooocyte, 2N 4C
Secondary Oocyte 1N 2C

95
Q

Carboxylase reactions

A

Pyruvate carboxylase and conversion of Propionyl-CoA to methylmalonyl-CoA

96
Q

Nitroblue Tetrazolium test

A

Tests for NADPH activity

97
Q

Perforin/Granzyme & expression of FasL second signal?

A

IL-2 from TH1 cells is secondary signal

98
Q

Disorders of fibrinolysis have normal platelet counts and No increased D-dimers

A

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
Q

Radical prostatectomy leads to?

A

Leads to release of urokinase (activates plasmin); TX w/ aminocaproic acid

100
Q

Thrombomodulin

A

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
Q

Vitamin B6/pyridoxine def?

A

B6 deficiency (nutrition or Isoniazid) or lead poisoning cause acquired sideroblastic anemia

102
Q

metabisulfite is positive in?

A

Positive in both SCD and SCTrait

103
Q

Lymphocytes are high during?

A

Lymphocytosis promoting factor; Viruses also increase lymphocytes

104
Q

Tdt is a what in the cell?

A

DNA polymerase

105
Q

OriT to tra get…?

A

Genes closer to OriT get transferred more

106
Q

Sqrt(prevalence/4) =?

A

1/4 kid gets disease, square root gives carrier rate

107
Q

Mitral valve prolapse assocaited with?

A

Also long face, large/everted ears and huge balls

Fragile x, (classic: marfans)

108
Q

Acetazolamide does what to urine? what type of stones?

A

Alkalyzes the urine, urate crystals only at acidic pH

109
Q

Benzoate and phenylbutryate uses?

A

used in hyperammonemia and urea cycle deficiencies to allow NH3 excretion

110
Q

hereditary N-acetylglutamate deficiency

A

TX w/ carbamoyl glutamate, necessary corfactor for Carbamoyl Phosphate Synthase 1

111
Q

Homocystinuria s/s

A

Intellectual disability, osteoporosis, lens subluxation, tall, kyphosis, thrombosis/atherosclerosis

112
Q

RNAaseL and Protein Kinase function?

A

Shut down both viral and host cell protein synthesis to prevent bacteria spread.w/ dsRNA present

upreg bya INF alpha and beta

113
Q

TCR, CD4, CD3, CD40L, CD28- found on?

A

all CD4 T cell

CD40L activates B cells and is not on CD8 Tcells

114
Q

CD16, CD56- found on?

A

CD16 bings Fc region of IgG

NK cells

115
Q

Increase CO and decrease RAP

A

CO curve shifted up, venous return curve does not move

116
Q

Increased CO and increased RAP

A

CO curve does not move, VR curve shifted to the right

117
Q

Decreased CO and no change in RAP

A

CO curve shifted down (due to inc afterload), VR curve Rotated counterclockwise (due to inc TPR)

118
Q

LDL

A

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
Q

Parietal cell Receptors for regulation?

A

Ach & Gastrin– Gq
Histamine–Gs
Prostaglandins and Somatostatin – Gi

Ca/IP3 and cAMP increase the H+/K+ ATPase on the luminal membrane

120
Q

Gastrin inhibitors?

A

Ach by Atropine; Histamine by Ranitidine/Cimetidine/Famotidine

121
Q

H+ out of the cell (secondary active transport) prevents?

A

Adding H+ prevents bacterial efflux of drugs

122
Q
  • Increased gland tortuosity and secretion
  • Edema of stromal cells

mediated via?

A

Progesterone mediated

123
Q

Theca Interna

A

seceretes androgens

NOT in Theca Externa (structural support only)

124
Q

TRH and prolactin relationship?

A

Primary/Secondary hypothyroidism can cause galactorrhea

125
Q

Plasma cells in the spleen

A

Increased mature megakaryocytes on BM biopsy

126
Q

Antithrombin III deficiency causes?

A

Genetic or Nephrotic Syndrome

127
Q

B6/Pyridoxine and B3/Niacin relationship?

A

B6 is necessary for Niacin synthesis

128
Q

Hepatoduodenal lig contains?

A

Contains the portal triad–Portal vein, hepatic artery, common bile duct

129
Q

Short Gastric supplies?

A

supply the fundus of stomach off splenic artery

130
Q
Metanephric Mesenchyme gives?
Ureteric Bud (from mesonephric duct) gives?
A
  • ->Glomerulus to distal tubule

- ->Collecting duct to Ureter

131
Q

Uretopelvic junction are due to the fact that?

A

Last to canalize

132
Q

Juxtaglomerular apparatus

A

Release renin in response to B1 stimulus, low renal perfusion, and low NaCl to macula densa

133
Q

D2 R?

A

GiPCR

134
Q

Form Nitrous Oxide which activates guanalyl cylase, which increases cGMP which causes?

A

Increased cGMP causes dephosphorylation of myosin light chain kinase

135
Q

Acidic aa on hitones?

Basic AA on histones?

A

Arginine and Lysine are enriched in histones (bind negatively charged DNA)

Acidic: Aspartate and Glutamate
Basic: Arginine, Lysine, and Histidine

136
Q

Vit C, Copper, Zinc. needed for?

A

Vit C- Proline/Lysine Hydroxylase; Copper- Lysyl Oxidase; Zinc- Collagenase (type 3 to 1)

137
Q

Weeks after a hemolytic episode

A

Otherwise only cells w/ the enzyme will be left (need cells beyond G6PD’s half life)

138
Q

Thyroid Hormone

A

Hypothyroidism–>Hypercholesterolemia due to decreased LDL receptors
Hyperthyroidism–>Hypocholesterolemia due to increased LDL receptors

139
Q

Congenital Pharyngo-cutaneous fistula?

A

fistula between the tonsillar area and lateral neck

140
Q

Treacher-Collins syndrome s/s

A

mandibular hypoplasia and facial abnormalities

141
Q

Vitamin A

A

Deficiency causes night blindness and immune suppression

142
Q

Pyruvate Dehydrogenase, Transketolase, a-Ketoglutarate Dehydrogenase, Branched-chain Ketoacid Dehydrogenase

A

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
Q

Thyroid Hormone

A

Hypothyroidism–>Hypercholesterolemia due to decreased LDL receptors
Hyperthyroidism–>Hypocholesterolemia due to increased LDL receptors

144
Q

Congenital Pharyngo-cutaneous fistula

A

fistula between the tonsillar area and lateral neck

145
Q

Treacher-Collins syndrome

A

mandibular hypoplasia and facial abnormalities