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Boards First Aid > BiochemII > Flashcards

BiochemII Flashcards

1
Q

Autorecessive disease

A 
auto rec polycystic kidney disease
CF
glycogen storage disease
hemochromatosis
kartagener syndrome
mucopolysaccharidoses
phenylketonuria
sickle cell anemia
spingolipidoses
thalassemias
wilson disease
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2
Q

X linked recessive disorders

A 
Bruton agammaglobulinemia
Wiskott Aldrich
Fabry disease
G6PD deficiency
Leschy Nyan
Duchene
Hemophilias A B
OTC deficiency
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3
Q

Fragile X syndrom

A

X linked methylation of FMRI gene
CGG repeat
big testes, retardation, long face, large jaw, large everted ears, autism, mitral valve prolapse

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4
Q

repeat in Friedreich ataxia

A

GAA

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5
Q

repeat in huntingtons

A

CAG

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6
Q

repeat in myotonic dystrophy

A

CTG

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7
Q

chrom 3

A

VHL, renal cell carcinoma

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8
Q

chrom 4

A

auto dom PKD with PKD2

huntington

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9
Q

chrom 5

A

cri du chat, familial adenomatous polyposis

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10
Q

chrom 7

A

williams syndrome

CF

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11
Q

chrom 9

A

friedrich ataxia

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12
Q

chrom 11

A

wilms tumor

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13
Q

chrom 13

A

patau syndrome

wilson disease

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14
Q

chrom 15

A

prader willi

angelman

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15
Q

chrom 16

A

AD PKD with PKD1 defect

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16
Q

chrom 17

A

NF1

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17
Q

chrom 18

A

edwards

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18
Q

chrom 21

A

downs

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19
Q

chrom 22

A

NF2 and digeorge

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20
Q

X chrom

A

fragile X
X linked agammaglobulinemia
Klinefelter syndrome (XXY)

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21
Q

CATCH22

A 
22q11 deletion
aberrant development 3rd and 4th branchial pouches
Cleft palate
Abnormal facies
Thymic aplasia--> T cell deficiency
Cardiac defects
HypoCa from PTH aplasia
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22
Q

digeorge

A

thymic

parathyroid and cardiac defects

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23
Q

Vitamin B

That real nice pretty pink beautiful fucking cunt

A 
thiamine B1
Riboflavin B2
niacin B3 NAD+
pantothenic acid B5 CoA
pyridoxine B6
biotin B7
folate B9
cobalamin B12
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24
Q

B complex deficiencies

A

dermatitis, glossitis and diarrhea

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25
Q

enzymes that need thiamine

A

Transketolase (HMP shunt)
Pyruvate dehydrogenase (link glycolysis to TCA)
alpha ketoglutarate dehydrogenase (TCA)
branched-chain ketoacid dehydrogenase

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26
Q

dry beri beri

A

polyneuritis, symmetrical mm wasting

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27
Q

wet beri beri

A

high output cardiac failure (dilated CM), edema

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28
Q

riboflavin

A

FAD and FMN

29
Q

deficiency of riboflavin

A

cheilosis and corneal vascularization

30
Q

niacin deficiency

A

diarrhea
dementia
dermatitis (C3/C4 dermatone circumferential) and hyperpigmentation of sun exposed limbs

31
Q

side effects of too much niacin

A

flushing
hyperglycemia
hyperuricemia

32
Q

deficiency vit B5

A

dermatitis, enteritis, alopecia, adrenal insufficiency

33
Q

vit B6 needed for

A

making heme, niacin, histamine, NT and cysthathionine

34
Q

deficiency B6

A

convulsions, hyperirritability, peripheral neuropathy, sideroblastic anemias from impaired hemoglobin synthesis and iron excess

35
Q

deficiency in biotin

A

dermatitis, alopecia, enteritis

excessive intake eff whites

36
Q

where is foalte absorbed

A

jejunum

37
Q

deficiency in folate

A

megaloblastic anemia
glossitis
inc homocysteine

38
Q

what drugs can cause folate deficiency

A

phenytoin, sulfonamides, MTX

39
Q

Dx for pernicious anemia

A

Ab to IF

40
Q

deficiency in cobalamin

A

megaloblastic anemia
paresthesias and subacute combined degeneration ( dorsal columns, lateral corticospinal tracts and spinocerebellar tracts)
inc homocysteine and methylmalonic acid levels

41
Q

Tx methemoglobinemia

A

ascorbic acid Vit C

42
Q

scurvy

A

swollen gums, bruising, petechiae, hemarthrosis, anemia, poor wound healing, perifolluclar and subperiosteal hemorrhages “corkscrew hair”
weakened immune response

43
Q

too much Vit C

A

nausea, vomiting, diarrhea, fatigue, Ca oxalate nephrolithiasis

44
Q

too much Vit D

A

hypercalcemia
hypercalciuria
loss appetite
stupor

45
Q

tocopherol and tocotrienol

A

Vitamin E

46
Q

what vitamin enhances anticoagulant effects warfarin

A

vit E

47
Q

deficiency in vit E

A

hemolytic anemia, acanthocytosis, muscle weakness, posterior column and spinocerebellar tract demyelination
looks like B12 def without megaloblastic anemia

48
Q

Vit K needed for

A

factors II VII IX X protein C and S

49
Q

what happens in zinc deficiency

A

delayed wound healing, hypogonadism, dec adult hair, anosmia, scaly plaques on butt

50
Q

kwashiorkor

A

swollen abdomen

protein malnutrition

51
Q

marasmus

A

total malnutrition

52
Q

drug for methanol or ethylene glycol poisoning

A

fomepizole

inhibits alcohol dehydrogenase

53
Q

disulfiram

A

inhibits acetaldehyde dehydrogenase

acetaldehyde accumulates

54
Q

what pathways occur in both mitochondria and cytoplasm

A

heme synthesis
urea cycle
gluconeogenesis

55
Q

what pathways occur in cytoplasm

A 
glycolysis
fatty acid synthesis
HMP shunt
protein synthesis RER
steroid synthesis SER
cholesterol synthesis
56
Q

rate limiting enzyme in glycolysis

A

PFK-1

57
Q

rate limiting enzyme in gluconeogensis

A

Fructose 1,6 bisphosphatase

58
Q

rate limiting in TCA

A

isocitrate dehydrogenase

59
Q

rate limiting glycogenesis

A

glycogen synthase

60
Q

rate limiting glycogenolysis

A

glycogen phosphorylase

61
Q

rate limiting HMP shunt

A

G6PD

62
Q

rate limiting de novo pyrimidine synthesis

A

carbamoyl phosphate synthetase II

63
Q

rate limiting de novo pruine synthesis

A

PRPP

64
Q

rate limit urea cycle

A

carbamoyl phosphate synthetase I

65
Q

rate limit in fatty acid synthesis

A

Acetyl CoA carboxylase

66
Q

rate limit in fatty acid oxidation

A

carnitine acyltransferase I

67
Q

rate limit in ketogenesis

A

HMG-CoA synthase

68
Q

rate limit in cholesterol synthesis

A

HMG-CoA reductase

Boards First Aid (3 decks)

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