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Step 1 > Biochemistry > Flashcards

Biochemistry Flashcards

1
Q

what phase of the cell cycle does this drug target:

methotrexate

A

S-phase

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2
Q

what phase of the cell cycle does this drug target:

5-fluorouracil

A

S-phase

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3
Q

what phase of the cell cycle does this drug target:

hydroxyurea

A

S-phase

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4
Q

what phase of the cell cycle does this drug target:

bleomycin

A

G2 phase

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5
Q

what phase of the cell cycle does this drug target:

paclitaxel

A

M phase

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6
Q

what phase of the cell cycle does this drug target:

vincristine

A

M phase

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7
Q

what phase of the cell cycle does this drug target:

vinblastine

A

M phase

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8
Q

what phase of the cell cycle does this drug target:

cyclophosphamide

A

non cell cycle specific

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9
Q

what phase of the cell cycle does this drug target:

cisplatin

A

non cell-cycle specific

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10
Q

base?

A

adenine

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11
Q

base?

A

guanine

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12
Q

base?

A

cytosine

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13
Q

base?

A

uracil

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14
Q

base?

A

thymine

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15
Q

what are the 3 positive charged amino acids?

A

lisine, arginine, histidine

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16
Q

mutation that causes sickle cell anemia

A

missense mutation

glu –> val

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17
Q

mutation that causes a-thalassemia

A

unequal crossover

chromosome 16

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18
Q

mutation that causes cri-du-chat

A

unequal crossover

(p arm) chromosome 5

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19
Q

mutation that causes b-thalassemia

A

splice site mutation

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20
Q

stop codons

A

UAA

UGA

UAG

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21
Q

start codon

A

AUG (rna)

ATG (dna)

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22
Q

codon that codes for glutamine

(typically affected in mutations)

A

CAG

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23
Q

codon repeated in:

fragile x syndrome

A

CGG

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24
Q

codon repeated in:

myotonic dystrophy

A

CTG

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25
Q

codon repeated in:

freidreich’s ataxia

A

GAA

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26
Q

codon repeated in:

huntington’s

A

CAG (glutamine)

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27
Q

codon repeated in:

spinobulbular muscular atrophy

A

CAG (glutamine)

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28
Q

in what stage and through what mechanism do pseudomonas and diphteria toxins inhibit eukaryotic protein synthesis?

A

elongation:

⊖ eEF-2 through ADP-ribosylation

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29
Q

through what mechanism do shiga and shiga-like toxins inhibit eukaryotic protein synthesis?

A

clip adenine residue in the 28S rNA

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30
Q

what is N- glycosilation?

A

addition of sugar to the nitrogen of asparginine residues of the protein

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31
Q

what is O-glycosilation?

A

addition of sugar to the OH groups of serine and threonine residues of the protein

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32
Q

what is prenylation?

A

its a covalent modification on proteins

addition of geranylgeranyl or farnesyl lipid groups on membrane-associated proteins so they can bind to cell membrane.

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33
Q

zellweger syndrome

pathophysiology and presentation

A

mutation in genes involving peroxisome biosynthesis –> defect in fefflux of fatty acids from peroxisiome

presentation:

  • enlarged liver
  • accumulation of Fe and Cu
  • vision problems
  • death withn the first year
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34
Q

what are the AA with aromatic side-chains?

A

phenylalanine

tyrosine

tryptophan

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35
Q

what are the important derivatives of phenylalanine?

A

tyrosine (by hydroxylating phenylalanine)

catecholamines!

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36
Q

what are the hydrophobic non polar AA with aliphatic side chains?

A
  • valine, leucine, isoleucine
  • glycine, proline
  • alanine
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37
Q

what are the derivatives of tryptophan?

A

serotonin and niacin

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38
Q

what are the 3 AA involved in maple syrup disease?

A

isolucein, leuceine, valine

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39
Q

what is the AA that is only present in collagen?

A

proline → hydroxiproline

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40
Q

🚩 AA in starving conditions

A

alanine

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41
Q

what are the basic AA?

A

hydrophilic + charged:

lysine, arginine, histidine

“his lines are basic”

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42
Q

what are the acidic AA?

A

hydrophilic, - charged :

aspartate (aspartic acid), glutamate (glutamic acid)

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43
Q

what are the hydrophilic polar, uncharged R group AA?

A

serine, theronine, asparagine

cysteine, methionine,

glutamine

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44
Q

what are the derivatives of arginine?

A

creatinine, urea, nitric oxide

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45
Q

what is the physiological significance of glutamine?

A

nitrogen metabolism

carrier of ammonia in the blood to the kidney

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46
Q

what are the derivatives of glutamate?

A

GABA, glutathione

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47
Q

what are the essential amino acids?

A

“TIM HaLL Punts Very Tough”

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48
Q

which are the glycogenic and ketogenic aa?

A
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49
Q

vitamin B1

A

thiamine

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50
Q

disease/sx associated with deficiency of biotin

A

“bald body builder”

excessive consumption of raw eggs → alopecia

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51
Q

vitamin B1

A

thiamine

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52
Q

disease/sx associated with deficiency of thiamine

A

ALCOHOLISM

  • Wernicke Encephalopathy
  • Korsakoff Syndrome
  • Beri-Beri (Dry/Wet)
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53
Q

enzyme reactions that require thiamine as a cofactor

A
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54
Q

wernicke encephalopathy triad

A
  1. confusion
  2. ophthalmoplegia
  3. ataxia
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55
Q

Korsakoff syndrome sx

A
  • permanent amnesia
  • confabulation
  • personality changes
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56
Q

dry beriberi

A

polyneuropathy with symmetric muscle waisting

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57
Q

wet beriberi

A
58
Q

wet beriberi

A

high-output cardiac failure (dilated cardiomyopathy)

59
Q

vitamin B3

A

niacin

60
Q

disease/sx associated with deficiency of niacin + sx

A

PELLAGRA

  • diarrhea
  • dementia
  • dermatitis
  • death
61
Q

disease/sx associated with deficiency of pyridoxine

A

sideroblastic anemia → accumulation of iron in the mitochondria

62
Q

🚩 magenta colored tongue

A

riboflavin (B2) deficiency

63
Q

🚩 bitot spots

A

keratin debris in the eyes

VITAMIN A DEFICIENCY

64
Q

cause of permanent neonatal type 1 diabetes?

A

near complete glucokinase deficiency

65
Q

sx of pyruvate kinase deficiency?

A

hemolytic anemia

accumulation of 2,3BPG

no Heinz bodies

66
Q

what is the cause of hereditary fructose intolerance?

A

aldolase B deficiency

67
Q

cofactors and coenzymes used by pyruvate dehydrogenase

A

“Tender Loving Care For Nancy”

68
Q

🚩 blue sclerae

A

osteogenesis imperfecta

69
Q

what are the 6 types of glycogen storage diseases?

A

“Vice President Can’t Accept Money, Honey”

I: Von Gierke

II: Pompe

III: Cori

IV: Andersen

V: McArdle

VI: Hers

70
Q

🚩 second wind phenomenon

A

McARDLE DISEASE

(type V glycogen storage disease)

specially I accompanied by

muncle cramps and myoglobinuria

71
Q

🚩 garlicky breath

A

Se toxicity

72
Q

what is the #1 cause of hemolytic anemia?

A

glucose 6P dehydrogenase deficiency

(no conversion of glucose 6P with NADPH byproduct)

73
Q

what is the cause of chronic granulomatous disease?

A

NADPH oxidase deficiency

74
Q

cause + consequence of familial hypercholesterolemia

A

defect in LDL-receptor gene expression

cool can’t be taken up → hypercholesterolemia

de novo synthesis can’t be inhibited → hypercholesterolemia

75
Q

🚩 red-orange eruptive xanthomas

A

primary hyperlipidemia type I

76
Q

🚩 xanthomas of the achilles tendon

A

primary hyperlipidemia type IIa

(familial hypercholesterolemia)

77
Q

🚩 corneal arcus

A

primary hyperlipidemia type IIa

(familial hypercholesterolemia)

78
Q

how do we ddx between myopathic CAT/CAT deficiency and McArdle Disease?

A

biopsy:

McArdle → ↑ muscle glycogen

CAT deficiency → ↑ muscle triglyceride

79
Q

🚩 dicarboxilic acid in the blood

A

MCAD deficiency (deficiency in medium chain acyl-CoA dehydrogenase → faulty b-oxidation)

80
Q

🚩 ↑ C8-C10 acyl carnitines in the blood

A

MCAD deficiency (deficiency in medium chain acyl-CoA dehydrogenase → faulty b-oxidation)

81
Q

what are the 3 ABC carboxylates?

A

pyruvate carboxylase

acetyl-CoA carboxylase

propionyl-CoA carboxylase

ATP

Biotin

CO2

82
Q

🚩 methylmalonic aciduria

A

vitamin B12 deficiency or

methylmalonyl-CoA mutate defect

(no conversion of methylmalonyl-CoA into succinylcholine-CoA)

83
Q

what enzyme is missing, what substrate accumulates?

tay-sach’s disease

A

hexoaminidase A → ganglioside GM2

84
Q

what enzyme is missing, what substrate accumulates?

gaucher

A

glucocerebrosidase → glucocerebroside

85
Q

what enzyme is missing, what substrate accumulates?

niemann-pick

A

sphingomyelinase → sphingomyelin

86
Q

🚩 cherry red spots in the macula

A

tay-sachs (+ blindness and psychomotor retardation)

OR

neimann-pick (+hepatosplenomegaly, mental retardation)

87
Q

🚩 crumpled paper inclusions

A

gaucher disease

88
Q

what enzyme is missing, what substrate accumulates?

fabry

A

alpha-galactosidase A → ceramide trihexoside globotriaosylceramide

89
Q

ɑ1-antiptrypsin deficiency (cause)

A

point mutation that causes the ɑ1-antiptrypsin to missfold and aggregate in the ER and damage cells (cirrhosis + fibrosis)

90
Q

hartnup disease (cause + sx)

A

deficiency in receptor that absorbs large AA including tryptophan

pellagra like sx

91
Q

cysteinuria (cause, findings, tx)

A

defect in receptor that absorbs basic AA + cysteine

cystine accumulates

azetazolamide

92
Q

🚩 orotic acid

A

ornithine transcarbomylase deficiency (genetic deficiency or urea synthesis)

93
Q

🚩 musty odor in diapers

A

phenylketonuria

94
Q

🚩 blue or black urine

A

alkaptonuria

95
Q

🚩 port-wine urine / red-brown urine

A

porphyria

+ photosensitivity -→ porphyria cutánea tarda

96
Q

🚩 siderroblasts in bone marrow

A

lead poisoning

OR

B6 (pyridoxine) deficiency

97
Q

🚩 hemosiderin

A

(precipitated ferritin in the blood)

iron overload → hemochromatosis

98
Q

what is the enzyme that conjugates bilirubin?

A

UDP-glucorynil transferase

99
Q

🚩 clay colored stools

A

bile obstruction

100
Q

lesch-nyhan syndrome

A

HGPRT deficiency

(no salvage of purines)

101
Q

what does adenosine deaminase deficiency cause?

A

severe combined immunodeficiency

102
Q

what is the effect of xanthine oxidase on 6-mercaptopurine?

A

deactivates it → hyperuricemia

103
Q

what enzyme is required for the activation of 6-mercaptopurine?

A

HGPRT

104
Q

crigler-najjar syndrome

A

severe congenital jaundice due to defect in UDP-glucoronyl transferase

105
Q

gilbert syndrome

A

below optimal function of UDP-glucoronyl transferase

benign, no jaundice

106
Q

autoimmune polyendocrine syndrome (triad)

A

mutation in autoimmune regulator gener (AIRE)

  1. mucocutaneous candidiasis
  2. hypoparathyroidism
  3. adrenal failure
107
Q

🚩 corkscrew hair

A

vitamin C deficiency

+ bleeding/swollen gums, easy bruising, petechiae, hermarthorsis/hemorrhages

108
Q

why does MCAD deficiency cause hyperammonemia

A
109
Q

🚩 needle shaped, negatively birefringent crystals

A

monosodium urate crystals → GOUT

110
Q

🚩 jaundice in the presence of sulfa drugs

A

hemolytic anemia (G6PD deficiency)

111
Q

🚩 mammilary body atrophy on MRI

A

advanced wernicke-korsakoff

112
Q

hypotonia + hypoketoic hypoglycemia + dilated cardiomiopathy

A

carnitine uptake deficiency or VLCAD deficiency (if carnitine esters are found)

113
Q

🚩 bite cells

A

G6PD deficiency

from the phagocytosis of Heinz bodies

114
Q

what are the 2 types of SCID?

A

ADA deficiency (AR) → low B&T cells,

IL2RG mutation (X-linked recessive) → dysfunctional B cells

115
Q

inheritance pattern of G6PDH deficiency

A

X-linked

116
Q

🚩 poor wound healing (trace element)

A

zinc

+ stomatitis, alopecia

117
Q

mx associated with hyperuricemia and increased risk of gout

A

Painful Tophy and Feet Need Care

Pyrazinamide

Thiazides

Furosemide

Niacine

Cyclosporine

118
Q

what compounds are metabolized into propionyl-CoA

A

VOMIT

Valine

Odd-chain fatty acids

Methionine

Isoleucine

Threonine

*not leucine!

119
Q

🚩 octanoyl-glycine in the blood

A

MCAD deficiency

120
Q

🚩 red/orange crystals in urine

A

“sand” crystals in diapers

HGPRT deficiency → Lesch Nyhan Syndrome

121
Q

bloom syndrome (cause)

A

BLM gene mutation → deficient helicase

122
Q

🚩 pythanic acid build up (+ other sx)

A

refsum disease (a-oxidation disorder)

  • shortening of the 4th toe
  • scaly skin
  • epiphyseal displasia
  • cataracts
123
Q

adrenoleukodystrophy (cause + sx)

A

x-linxed disorder of B-oxidation (ABCD1 gene)

  • accumulation of VLCFA in:
    • adrenal glands
    • white matter of the brain
124
Q

presentation of riboflavin deficiency

A
125
Q

which vitamin can be used to tx dyslipidemia?

A

niacin

126
Q

podagra

A

B3 over-dose “Oh Dear”

facial flushin

hyperglycemia

hyperuricemia

127
Q

fomepizol (use + mechanism of action)

A

methanol + ethylene glycol over dose

competitive inhibitor for alcohol dehydrogenase

128
Q

tissue in which sorbitol accumulates

A

LARKS

Lens

A → aldose reductase present

Retina

Kidneys

Schwann Cells

129
Q

clinical presentation of homocysteinuria

A
130
Q

🚩 build up of VLCFA

A

peroxisome disorders

  • zellwegger syndrome
  • adrenoleukodystrophy
  • refsum disease
131
Q

warburg effect

A

use of anaerobic glycolysis in stem or cancer cells despite adequate oxygen level which results in increased lactate

132
Q

stress hyperglycemia

A

elevated blood glucose in the context of sever illness in pts without preexisting DM

due to the secretion of stress hormones

133
Q

hunter syndrome

(pres, enzyme deficiency, substrate that accumulates, inheritance)

A

“hunters see clearly and aggressively aim for the X”

134
Q

hunter syndrome

(pres, enzyme deficiency, substrate that accumulates, inheritance)

A
135
Q

reactions dependent on BH4

A

phenylalanine → tyrosine → DOPA

tryptophan → serotonin

arginine → NO

136
Q

🚩 cheilosis + stomatitis + glossitis

A

riboflavin deficiency

137
Q

what does a-amantadin inhibit?

A

RNA polymerase II which makes mRNA, snRNA and hnRNA

138
Q

🚩 abnormal pallor of catecholaminergic brain nuclei on autopsy

A

phenylketonuria

139
Q

🚩 hyperphenylalaninemia + elevated prolactin

A

dehydrobipterin reductase

140
Q

🚩 neutral amino aciduria

A

hartnup disease

no absorbtion of neutral amino acids (tryptophan)

pellagra like sx + cerebellar ataxia

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