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Buzzwords Step 1 > Biochem Diseases > Flashcards

Biochem Diseases Flashcards

1
Q

In what benign condition do you see excretion of large amounts of fructose after ingestion?

A

Essential fructosuria (fructokinase deficiency)

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2
Q

What drug blocks the F0 portion of the adenosine triphosphatase (ATPase) system of the ETC?

A

oligomycin

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3
Q

What drug blocks the ETC by attahing itself to K+ for pasage through the membrane, negating the charge gradient?

A

Valinomycin

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4
Q

A patient who presents with cardiomegaly and hepatomegaly has what glycogen storage disease?

A

Pompe’s disease (lysosomal glucosidase def)

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5
Q

What hormone is activated in adipose tissue when blood glucose levels decrease?

A

Hormone-sensitive lipase

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6
Q

What disease is produced by a deficiency in the enzyme tyrosinase?

A

Albinism (tyrosine is converted to melanin by the enzyme tyrosinase)

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7
Q

What 2 enzymes are blocked by lead?

A
  1. ALA dehydratase

2. Ferrochelatase

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8
Q

What enzyme is blocked by allopurinol?

A

Xanthine oxidase (suicide inhibitor)

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9
Q

What 3 organs are used to produce vit D?

A

Skin
Liver
Kidney

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10
Q

Lack of what enzyme can lead to wernicke-korsakff synd through lack of activity in the HMP shunt

A

TPP

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11
Q

Which enzyme is deficient in PKU?

A

phenylalanine hydroxylase

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12
Q

Which enzyme is deficient in alcaptonuria?

A

Homogentisic acid

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13
Q

In a diabetic patient, glucose is converted to what by aldose reductase?

A

Sorbitol (resulting in cataracts)

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14
Q

Which enzyme is deficient in a patient who presents with: liver damage and severe hypoglycemia?

A

Aldolase B (hereditary fructose intolerance)

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15
Q

Which enzyme is deficient in a patient who presents with: jaundice, vomiting, lethargy, cataracts, galactosemia, and galactosuria?

A

Galactose 1-phosphate uridyltransferase

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16
Q

What disease presents with weakness and cramps on exercise without an inc in blood lactate levels?

A

McArdle’s disease (muscle glycogen phosphorylase def)

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17
Q

What disease presents with an enlarged liver and kidneys, dwarfism, hypoglycemia, acidosis, and hyperlipidemia?

A

VonGierke’s disease (Glucose-6-phosphatase deficiency)

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18
Q

Deficiency in the liver glycogen phosphorylase enzyme is known as what?

A

Hers disease

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19
Q

What causes the lysis of RBC by oxidizing agents in a glucose-6-phosphate dehydrogenase deficiency?

A

Lack of glutathione peroxidase activity results in dec in NADPH production, leaving glutathione in the reduced state.

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20
Q

What disease presents with hepatomegaly and a normal EKG?

A

glycogen storage disease, type III

Forbes disease, Cori disease

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21
Q

What enzyme is blocked by disulfiram?

A

Aldehyde dehydrogenase

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22
Q

What 2 enzymes are Vit B12 dependent?

A
  1. Homocysteine methyl transferase

2. methylmalonyl CoA transferase

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23
Q

What enzyme is deficient in a patient 2 years of age or younger who presents with vomiting, lethargy, coma, hypoketosis, and hypoglycemia following a fast of more than 12 hours?

A

medium chain acyl dehydrogenase

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24
Q

What form of alcohol did a patient drink if he becomes blind as a result?

A

Methanol (wood alcohol)

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25
Q

What type of damage to the kidneys is caused by drinking ethylene glycol (antifreeze)?

A

Nephrotoxic oxylate stones

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26
Q

What is the order of fuel use in a prolonged fast?

A
  1. glucose from liver glycogen
  2. glucose from gluconeogenesis
    3, body protein
  3. body fat
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27
Q

What enzyem deficiency will rsult in an increase in blood ammonia and increase in uracil and orotate concentrations in both the blood and urine?

A

Ornithine transcarbamolyase (OTC) deficiency - also called ornithine carboamyltransverase (OCT) def

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28
Q

What aa is the precursor of the following substances: serotonin

A

tryptophan

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29
Q

What aa is the precursor of the following substances: GABA

A

glutamate

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30
Q

What aa is the precursor of the following substances: histamine

A

histidine

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31
Q

What aa is the precursor of the following substances: creatine

A

glycine/arginine

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32
Q

What aa is the precursor of the following substances: NAD

A

tryptophan

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33
Q

What aa is the precursor of the following substances: N2O

A

arginine

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34
Q

What enzyme deficiency will result in an increase in blood ammonia, but no increase in uracil concentrations?

A

Carbamoyl-phosphate synthetase

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35
Q

What are the 3 diseases of sphingolipids?

A
  1. Niemman-Pick disease
  2. Gauger disease
  3. Tay-Sachs disease
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36
Q

What type of jaundice is seen in Rotor’s syndrome?

A

Conjugated (direct) hyperbilirubinemia

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37
Q

What enzyme is blocked by hydroxyurea?

A

ribonucleotide reductase

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38
Q

What enzyme is deficient in hereditary protoporphyria?

A

Ferrochelatase

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39
Q

What enzyme is blocked by 5-FU

A

thymidylate synthetase

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40
Q

What disease has a genetically low level of UDPglucuronate transferase, resulting in elevated free unconjugated bilirubin?

A

Gilbert syndrome

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41
Q

What form of bilirubin can cross the BB?

A

unconjugated free bilirubin

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42
Q

What enzyme is blocked by methotrexate/trimethoprim?

A

DHF reductase

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43
Q

What type of jaundice is seen in Dubin-Johnson syndrome?

A

Conjugated (direct) hyperbilirubinemia (transport defect)

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44
Q

What form of bilirubin is carried on albumin?

A

unconjugated (indirect)

45
Q

What disease is there a genetic absence of UDPgulcuronate transferase, resulting in inc in free unconjugated bili?

A

Crigler-Najjar syndrome

46
Q

What enzyme is deficient in acute intermittent porphyria?

A

Uroporphyrinogen I synthetase

47
Q

What enzyme is deficient in congenital erythropoietic porphyria?

A

Uroporphyrinogen III cosynthase

48
Q

What disease has a genetic deficiency in adenosine deaminase?

A

SCID

49
Q

In what idsease is there a deficiency in hypoanthine guanine phosphoribosyl transferase (HGPRT)

A

Lesch-Nyhan syndrome

50
Q

What enzyme is deficient in selective T cell immunodeficiency?

A

purine nucleoside phosphorylase

51
Q

What substrate builds up in Tay-Sachs disease?

A

Ganglioside GM2

52
Q

What toxin ADP-ribosylates via Gs protein to inc cAMP?

A

cholera toxin

53
Q

What vit derivatives are used for growth and differentiation of epithelium for reproductive and embryonic development?

A

Vit A

54
Q

Light causes isomerization of what in the eyes?

A

11-cis-retinal to trans-retinal (activated rhodopsin)

55
Q

What are the 2 actions of calcitonin?

A
  1. inc ca excretion from the kidney

2. inc bone mineralization

56
Q

What causes an inc in bone mineralization and Ca2+, as well as PO4 absorption from teh GI tract and kidney tubules?

A

Vit D

57
Q

What 2 factors cause PTH to be secreted?

A
  1. Dec in blood Ca2+

2. Dec in PO4 conc

58
Q

What in the human genome differs in each indiv that can serve as an ID marker?

A

RFLP - restriction fragment length polymorphism

59
Q

What test is used to ID HIV positive patients?

A

ELISA

60
Q

What toxin ADP-ribosylates via Gi to inc cAMP

A

pertussis toxin

61
Q

What vit is essential for normal Ca2+ and PO4 metabolism?

A

vit D

62
Q

What vit is deficient in a person who has impaired taste, night blindness and inc ris for having an abortion?

A

Vit A

63
Q

What bond does an endonuclease cleave?

A

3’, 5’ internal phosphodiesterase bond

64
Q

What protein separates base pairs and unwinds DNA at the replication fork?

A

helicase (ATP-dependent)

65
Q

What vit def cause liver necrosis and RBC fragility?

A

Vit E def

66
Q

What direction is a new DNA strand made?

A

5’ to 3’

67
Q

What enzyme has a 5’ to 3’ synthesis activity and 3’ exonuclease activity?

A

DNA polymerase III

68
Q

what enzyme makes a ds cut through DNA, needs ATP, and introduces neg supercoiling?

A

topoisomerase II

69
Q

What eukaryotic DNA polymerase is used for: DNA replication?

A

a- and delta polyerase

70
Q

What eukaryotic DNA polymerase is used for: replication in mito?

A

gamma-polymerase

71
Q

What eukaryotic DNA polymerase is used for: DNA repair?

A

b-polymerase

72
Q

What is the orientation of the gene seq strand?

A

5’ to 3’ (same as RNA)

73
Q

What is the location of the TATA box in prokaryotes?

A

10 bases downstream

74
Q

What binds to the promotor region in procaryote?

A

Sigma factor

75
Q

What enzymes has a 5’ to 3’ synthesis of the Okazaki fragments, 3’ exonuclease activity, and 5’ exonuclease activity?

A

DNA polymerase I

76
Q

What position of the anticodon does the “wobble” hypothesis occur?

A

position 1 of the anticodon (the 5’ end) which is the same as position 3of the codon (the 3’ end)

77
Q

3 stop codons?

A

UAA, UAG, UGA

78
Q

What stops transcription in procaryotes?

A

Rho factor or a hairpin loop

79
Q

3 post-transcriptional modifications?

A
  1. 7 methyl guanine cap on 5’ end
  2. polyA tail on 3’ end
  3. removal of introns
80
Q

Mutation in which a diff codon is added –> dif aa?

A

missense mutation

81
Q

Aa attached to the 3’ end of the tRNA in eukaryotes?

A

methionine

82
Q

Enzyme that makes tRNA and the 5sRNA

A

RNA pol III

83
Q

2 aa requiring vit C for hydroxylation?

A

proline, lysine

84
Q

Mutation that has a stop codon in place of previous codon

A

nonsense mutation

85
Q

aa attached to the 3’ end of the tRNA in procaryotes

A

f-methionine

86
Q

Enzme that makes rRNA (barring the 5s subunit)

A

RNA pol I

87
Q

Site of action of cycloheximide?

A

peptidyl transferase (60s)

88
Q

What translation factor is blocked by erythromycin?

A

EF - G

89
Q

Lack of what vit causes multiple carboxylase def?

A

biotin

90
Q

Enzyme that makes hnRNA/mRNA?

A

RNA pol II

91
Q

What enzyme is def in cystathioninuria?

A

Cystathionase

92
Q

What enzyme is deficient in maple syrup urine disease?

A

branched chain keto acid dehydrogenase

93
Q

What is the site of action of puromycin?

A

aminoacyl tRNA (A site)

94
Q

What translational factor is blocked by both diphtheria and Pseudomonas toxins?

A

Elongtaion factor 2

95
Q

What substrate gets built up in Gaucher’s disease?

A

Glucosyl cerebroside

96
Q

What enzyme is deficient in homocystinuria?

A

homocysteine methyl transferase or cystathionine synthetase

97
Q

What substrate is bult up in Niemann-Pick disease?

A

sphingomyelin

98
Q

What is the second messenger system used by growth factors?

A

Tyrosine kinase

99
Q

What is the name of the sequence on mRNA that precedes the start codon in prokaryotes?

A

Shine-Dalgarno seq

100
Q

What aa undergoes N-glycosylation/

A

Aspargine

101
Q

What translational factor is blocked by tetracycline?

A

EF-tu

102
Q

What translational facotr is blocked by streptomycin?

A

IF-2

103
Q

Which organisms have polycistronic mRNA

A

Prokaryotes (polycistronic and Prokaryotes both start with P)

104
Q

In what disease are lysosomal enzymes released into the extracellular space where an accum of inclusion bodies compromises the cell’s function?

A

I-cell disease

105
Q

Site of action of chloramphenicol?

A

peptidyl transferase (50s)

106
Q

Is the hydroxyl (-OH) end of DNA and RNA at the 3’ or 5 end?

A

3’ (phsphate is at the 5’ end)

107
Q

What tumor suppressor gene prevents a cell from enetering S phase when no growth factors are present?

A

Rb gene

108
Q

Tumor suppressor gene that prevents a cell with damaged DNA from entering S phase

A

p53 gene

Buzzwords Step 1 (19 decks)

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