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First Aid > Biochem > Flashcards

Biochem Flashcards

1
Q

GAGs are required in purine synthesis

A

Glycine

Aspartate

Glutamine

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2
Q

Leflunomide inhibits

A

Dihydroorotate dehydrogenase in Pyrimidine De novo synthesis

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3
Q

Dihydroorotate dehydrogenase converts

A

Carbamoyl phosphate to Orotic acid

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4
Q

Mycophenolate inhibits

A

IMP dehydrogenase in purine synthesis

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5
Q

Ribavirin inhibits

A

IMP dehydrogenase in purine synthesis

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6
Q

Hydroxyurea inhibits

A

Ribonucleotide reductase in Pyrimidine synthesis

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7
Q

Ribonucleotide reductase converts

A

UDP to dUDP

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8
Q

HGPRT converts

A

Hypoxanthine to IMP and Guanine to GMP in Purine Salvage

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9
Q

Lesch-Nyhan syndrome is

A

X-linked recessive absence of HGPRT

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10
Q

Treatment of Lesch-Nyhan

A

Allopurinol or Febuxostat

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11
Q

Fluoroquinolones inhibit

A

DNA gyrase (prokaryotic topoisomerase 2)

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12
Q

Nucleotide excision repair

A

Specific endonucleases release the oligonucleotide containing damaged bases

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13
Q

What is defective in Xeroderma pigmentosum

A

AR nucleotide exicision repair

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14
Q

What is defective in HNPCC

A

Mismatch repair

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15
Q

What is mutated in ataxia telangiectasia

A

Nonhomologous end joining

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16
Q

RER is the site of

A

Synthesis of secretory proteins and of N-linked oligosaccharide addition to many proteins

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17
Q

SER is site of

A

Steroid synthesis and detoxification of drugs and poisons

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18
Q

Golgi is

A

Distribution center for proteins and lipids from the ER to vesicles and plamsa membrane

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19
Q

What occures in Golgi

A
  1. Modifies N-oligosacchardes on aspargine
  2. Adds O-oligosacchardes on serine and threonine
  3. Adds mannose-6-phosphate to proteins
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20
Q

I-cell disease is

A

Defect in phosphotransferase leading to failure of Golgi to phosphorylate mannose residues

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21
Q

I-cell disease clinical

A
  1. Coarse face
  2. Clouded corneas
  3. Restricted joint movement
  4. High plasma levels of lysosomal enzymes
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22
Q

COP1 move proteins from

A

Golgi to ER

Golgi to Golgi (retrograde)

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23
Q

COP2 moves proteins from

A

ER to Golgi

Golgi to Golgi (anterograde)

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24
Q

Microtubules Get Constructed Very Poorly are druges that act on Microtubules

A
  1. Mebendazole (anti-helminthic)
  2. Griseofluvin (anti-fungal)
  3. Colchicine (anti-gout)
  4. Vincristine/Vinblastin (anti-cancer)
  5. Paclitaxel (anti-cancer)
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25
Q

Collagen is 1/3

A

Glycine

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26
Q

Osteogenesis imperfecta is prolbems

A

forming triple helix of collagen in glycosylation in RER

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27
Q

Osteogeneisis imperfecta genetics

A

AD

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28
Q

Skin and joint symptoms of Ehlers-Danlos is due to mutation in

A

Collagen type 5

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29
Q

Menkes diseases is due to

A

Impaired Cu absorption and transport

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30
Q

ELISA is used to detect

A

Antigen (direct)

Antibody (indirect)

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31
Q

Pleiotropy means

A

One gene contributes to multiple phenotypic effects such as PKU

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32
Q

Loss of heterozygosity is also known as

A

Two-hit hypothesis

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33
Q

Mosaicism is

A

Presence of genetically distinct cell lines in the same individual due to mitotic errors after fertilization

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34
Q

Example of Locus heterogeneity

A

Albinism, Marfan, Homocystine

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35
Q

Example of Allelic heterogeneity

A

β-thalassemia

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36
Q

Heterodisomy indicates

A

A meiosis 1 error leading to Uniparental disomy

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37
Q

Isodisomy indicates

A

Meiosis 2 error leading to uniparental disomy

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38
Q

FAP genetics

A

AD mutaiton in APC (chro 5)

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39
Q

Familial hypercholesterolemia genetics

A

AD defective or absent LDL receptor

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40
Q

Hereditary hemorrhagic telangiectasia also known as

A

Osler-Weber-Rendu syndrome

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41
Q

Hereditary hemorrhagic telangiectasia genetics

A

AD disorder of blood vessels

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42
Q

Hereditary spherocytosis genetics

A

AD spectrin or ankyrin defect

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43
Q

Huntington disease genetics

A

AD CAG repeat on chro 4

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44
Q

Marfan syndrome genetics

A

AD fibrillin-1 gene mutation

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45
Q

MEN genetics

A

AD mutation in Ret

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46
Q

Tuberous sclerosis genetics

A

AD neurocutaneous disorder

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47
Q

VHL disease genetics

A

AD VHL gene deletion on chro 3

48
Q

CF genetics

A

AR defect in CFTR on Chro 7

49
Q

AR diseases (12)

A
  1. Albinism
  2. ARPKD
  3. CF
  4. Glycogen storage diseases
  5. Hemochromatosis
  6. Kartagener
  7. Mucopolysaccharidoses
  8. PKU
  9. Sickle cell
  10. Sphingolipidoses
  11. Thalassemia
  12. Wilson
50
Q

Be Wise, Fool’s GOLD Heeds Silly HOpe are x-linked recessive disorders

A
  1. Bruton agammaglobulinemia
  2. Wiskott-Aldrich
  3. Fabry
  4. G6PD
  5. Ocular albinism
  6. Lesch-Nyhan
  7. Duchenne
  8. Hunter Syndrome
  9. Hemophilia A and B
  10. Ornithine transcarbamylase deficiency
51
Q

Duchenne genetics

A

X-linked recessive frameshift mutation of dystrophin

52
Q

Becker genetics

A

X-linked recessive point mutation of dystrophin gene

53
Q

Myotonic dystrophy genetics

A

X-linked recessive CTG repeat in DMPK gene

54
Q

Myotonic dystrophy clinical

A
  1. Myotonia
  2. Muscle wasting
  3. Frontal balding
  4. Cataracts
  5. Testicular atrophy
  6. Arrhythmia
55
Q

Fragile X syndrome repeat

A

CGG

56
Q

Friedreich ataxia repeat

A

GAA

57
Q

Huntington repeat

A

CAG

58
Q

Myotonic repeat

A

CTG

59
Q

Williams syndrome due to

A

Congenital microdeletion of long arm of chro 7

60
Q

Williams syndrome clinical

A
  1. Elfin face
  2. Intellecual disability
  3. Hypercalcemia
  4. Extreme friendliness with strangers
  5. CVS problems
61
Q

B1 is

A

Thiamine

62
Q

B2 is

A

Riboflavin

63
Q

B3 is

A

Niacin

64
Q

B5 is

A

Pantothenic acid: CoA

65
Q

B6 is

A

Pyridoxine

66
Q

B7 is

A

Biotin

67
Q

B9 is

A

Folate

68
Q

B12 is

A

Cobalamin

69
Q

Thiamine (B1) is required for

A

ATP

α-ketoglutarate

Transketolase

Pyruvate dehydrogenase

70
Q

3 D’s of B3

A

Diarrhea

Dementia

Dermatitis

71
Q

Kwashiorkor MEAL

A
  • Malnutrition (low protein)
  • Edema
  • Anemia
  • Liver damage (fatty liver)
  • Skin lesions and hair loss
72
Q

Action of Kinase

A

Uses ATP to add high-energy phosphate group

73
Q

Action of Phosphorylase

A

Adds inorganic phosphate without using ATP

74
Q

Action of Phosphatase

A

Removes phosphate group

75
Q

Action of Dehydrogenase

A

Catalyzes oxidation-reduction reaction

76
Q

Action of Hydroxylase

A

Adds -OH

77
Q

Action of Carboxylase

A

Transfers CO2 with help of biotin

78
Q

NADPH used in

A
  1. Anabolic processes
  2. Respiratory burst
  3. Cytochrome P-450 system
  4. Glutathione reductase
79
Q

TLC for Nancy needed for what enzymes

A

Pyruvate dehydrogenase

α-ketoglutarate

80
Q

What is seen in G6PD Deficiency

A
  1. Heinz bodies: Oxidized Hemoglobin
  2. Bite cells: phagocytic removal of heinz bodies
81
Q

Essential fructosuria genetics

A

AR defect in Fructokinase

82
Q

Fructose intolerance genetics

A

AR deficiency in aldolase B

83
Q

Galactokinase deficiency genetics

A

AR deficiency of Glacotokinase

84
Q

Classic galactosemia genetics

A

AR absence of glactose-1-phophate uridyltransferase

85
Q

PriVaTe TIM HALL are essential AA

A
  1. Phenylalanine
  2. Valine
  3. Tryptophan
  4. Threonine
  5. Iisolucine
  6. Methionine
  7. Histidine
  8. Alanine
  9. Leucine
  10. Lysine
86
Q

PKU is due to

A

Decrease Phenylalanine hydroxylase or Decrease Tetrahydrobiopterin cofactor

87
Q

PKU clinical

A
  1. Mental retardation
  2. Growth retardation
  3. Seizures
  4. Fair skin
  5. Eczema
  6. Musty body odor
88
Q

Alkaptonuria is

A

AR deficiency of homogentisate oxidase

89
Q

Different types of Homocystinuria

A
  1. Cystathionine synthase deficiency
  2. B6 deficiency
  3. Homocysteine methyltransferase deficiency
90
Q

Homocystinuria clinical

A
  1. Mental retardation
  2. Osteoporosis
  3. Tall stature
  4. Kyphosis
  5. Lens subluxation
  6. Thrombosis
  7. Atherosclerosis
91
Q

Von Gierke disease is

A

AR deficiency in Glucose-6-phosphatase leading to Glycogen storage disease

92
Q

Pompe disease is

A

AR deficiency in Lysosomal α-1,4-glucosidase leading to Glycogen storage disease that damages the heart

93
Q

Cori disease is

A

AR deficiency in Debranching enzyme leading to Glycogen storage disease

94
Q

McArdle disease is

A

AR deficiency in skeletal muscle glycogen phosphorylase

95
Q

Fabry disease is

A

X-linked recessive deficiency in α-galactosidase A leading to lysosomal storage disease

96
Q

What accumulates in Fabry disease

A

Ceramide trihexoside

97
Q

Fabry clinical

A

Peripheral neuropathy of hands/feet

Angiokeratoma

CVS and renal

98
Q

Gaugher is

A

AR deficiency in Glucocerebrosidase causing lysosomal storage disease

99
Q

What accumulates in Gaucher

A

Glucocerebroside

100
Q

Gaucher clinical

A
  1. Hepatosplenomegaly
  2. Pancytopenia
  3. Aseptic necrosis of femur
  4. Bone crisis
101
Q

Niemann-Pick is

A

AR deficiency in Sphingomyelinase leading to Lysosomal storage disease

102
Q

What accumulates in Niemann-Pick

A

Sphingomyelin

103
Q

Niemann-Pick clinical

A
  1. Neurodegeneration
  2. Hepatosplenomegaly
  3. Cherry-red spot on macula
  4. Foam cells
104
Q

Tay-Sachs is

A

AR deficiency of Hexosaminidase A leading to lysosomal storage disease

105
Q

What accumulates in Tay-Sachs

A

GM2 ganglioside

106
Q

Tay-Sach clinical

A

Same as Niemann-Pick without hepatosplenomegaly

107
Q

Krabbe disease is

A

AR deficiency in Glactocerebrosidase leading to lysosomal storage disease

108
Q

What accumulates in Krabbe

A

Galactocerebroside

Psychosine

109
Q

Hurler syndrome is

A

AR deficiency in α-L-iduronidase leading to lysosomal storage disease

110
Q

What is accumulated in Hurler

A

Heparan sulfate

Dermatan sulfate

111
Q

What maintains blood glucose levels after 1-3 days of starvation

A
  1. Hepatic glycogenolysis
  2. Adipose release of FFA
  3. Muslce and liver shift fuel use from glucose to FFA
112
Q

Type 1 Hyper-chylomicronemia is

A

AR lipoprotein lipase deficiency or altered apo-C2

113
Q

What is increased in Type 1 Hyper-chylomicronemia

A
  1. Chylomicrons
  2. TG
  3. Cholesterol
114
Q

Type 1 Hyper-Chylomicronemia clinical

A
  1. Pancreatitis
  2. Hepatosplenomegaly
  3. Eruptive/pruritic xanthomas
115
Q

2a Familial Hyper-Cholesterolemia is

A

AD absent or defective LDL receptors

116
Q

4 Hyper-Triglyceridemia is

A

AD hepatic overproduction of VLDL causing pancreatitis

First Aid (16 decks)

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