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Step 1- Biochem > Biochem > Flashcards

Biochem Flashcards

1
Q

thiamine, TPP

A

B1

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2
Q

ascorbic acid

A

vitamin C

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3
Q

riboflavin: FAD, FMN

A

B2

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4
Q

cobalamin

A

B12

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5
Q

niacin: NAD+

A

B3

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6
Q

folate

A

B9

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7
Q

pantothenic acid: CoA

A

B5

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8
Q

biotin

A

B7

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9
Q

pyridoxine: PLP

A

B6

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10
Q

niacin (B3) derived from which AA

in addition, what two other vitamins are needed to make niacin (B3)

A

tryptophan

B2 and B6

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11
Q

_____ acid (can be from the urea cycle if there is a problem) is precursor of pyrimidine

A

orotic

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12
Q

AA derivatives:
tryptophan –?–> _______ —-> _________
tryptophan –??–> ______ —> __________

A

B6, niacin, NAD/NADP

BH4, B6; serotonin; melatonin

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13
Q

AA derivatives: histidine –?—> ________

A

B6, histamine

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14
Q

AA derivatives: glycine –?–> ____ –> ________

A

B6, porphyrin, heme

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15
Q

ALA synthase problems associated with _______

A

sideroblastic anemia (X linked)

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16
Q

ALA dehydrates problems associated with _______

A

lead poisoning

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17
Q

porphobilinogen deaminase/HMB synthase/uroporphyrinogen I synthase issues associated with ________

A

acute intermittent porphyria

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18
Q

uroporphyrinogen decarboxylase issues associated with ______

A

porphyria cutanea tarda

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19
Q

ferrochetalase problems caused by ______

A

lead poisoning

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20
Q 
glycogen storage disease type I
name:
enzyme:
main sxs:
treatment
A
  • von gierke disease
  • glucose 6 phosphatase
  • severe fasting hypoglycemia, hypertriglycerides, hyperuricemia, hepatomegaly, increase glycogen in liver, hepatomegaly, growth retardation
  • frequent oral glucose/cornstarch, avoid fructose and galactose
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21
Q 
glycogen storage disease type II
name:
enzyme:
main sxs:
treatment:
A

-pompe disease
-acid maltase/lysosomal alpha-1,4-glucosidase
-cardiomyopathy, exercise intolerance, early death
(Pompe trashes the heart)
-none

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22
Q 
glycogen storage disease type III
name:
enzyme:
main sxs:
tx:
A
  • Cori disease
  • debranching enzme (alpha-1,6-glucosidase)
  • milder form of type I with normal lactate levels
  • none… gluconeogenesis is intact
23
Q 
glycogen storage disease V
name
enzyme
main sxs
tx
A
  • McArdle’s disease
  • skeletal muscle glycogen phosphorylase (myophosphorylase)
  • painful muscle cramps, myoglobinuria with strenuous exercise, arrhythmia
  • blood glucose levels usually normal; McArdle = muscle
  • tx with vitamin B6 (cofactor)
24
Q

all glycogen storage diseases have this inheritance

A

auto rec

25
Q

mode of inheritance: familial adenomatous polyposis

A

AD

26
Q

mode of inheritance: familial hypercholesterolemia

A

AD

27
Q

mode of inheritance: hereditary hemorrhagic telangiectasia

A

AD

28
Q

mode of inheritance: hereditary spherocytosis

A

AD

29
Q

mode of inheritance: huntington disease

A

AD

30
Q

mode of inheritance: Li-Fraumeni syndrome

A

AD

31
Q

mode of inheritance: marfan

A

AD

32
Q

mode of inheritance: MEN

A

AD

33
Q

mode of inheritance: NF1 aka ?

A

von recklinghausen disease

AD

34
Q

mode of inheritance: NF 2

A

AD

35
Q

mode of inheritance: tuberous sclerosis

A

AD

36
Q

mode of inheritance: von hippel lindau

A

AD

37
Q

85% of ADPKD due to mutation in _______on chromosome ______

the remainder is due to mutation of ______ on chromosome ________

A

PKD1 on chromosome 16

PKD2 on chromosome 4

38
Q

FAP progresses to cancer unless __________

mutation in _____ gene on chromosome ________

A

colon is resected

APC gene on chromosome 5q (5 letters in polyp)

39
Q

severe atherosclerosis, corneal arcus, tendon xanthomas (achilles), elevated LDL due to issues with LDL receptors
what is the disease?

A

familial hypercholesterolemia

40
Q

telengiectasias, epistaxis, skin discoloration, AVMs, GI bleeding, hematuria
aka. Osler-Weber-Rendu syndrome

A

HHT (hereditary hemorrhagic telengiectasia)

41
Q

defect in spectrin or ankyrin of RBC

what is it and how to tx

A

hereditary spherocytosis

tx with splenectomy

42
Q

increased DA, decreased GABA and ACh in brain
dementia, choreiform movements
what is it and what chromosome

A

Huntingdon’s
chromosome 4
CAG repeat

43
Q

P53 mutation, SBLA cancers

A

Li Fraumeni

sarcoma, breast, leukemia, adrenal gland cancers

44
Q

marfan gene mutation and location

A

FBN1 gene on chromosome 15 –> defective fibrillin

-upward subluxation of lenses, aortic and mitral valve issues

45
Q

MEN

  • locations of tumors
  • genes
A

pancreas, parathyroid, pituitary, thyroid, adrenal medulla
MEN1 for MEN1
RET for MEN 2A and 2B

46
Q

cafe au lair spots, optic gliomas, Lisch nodules, pheos

what is it, what gene, what chromosome

A

NF1 (von recklinghausen disease)

NF1 gene on chromosome 17

47
Q

bilateral acoustic neuroma

what is it, what gene, what chromosome

A

NF2

NF2 gene on chromosome 22

48
Q

benign hamartomas

what AD disease is this?

A

tuberous sclerosis

49
Q

numerous tumors- von hippel lindau

what gene and what chromosome

A

VHL gene (tumor suppressor) on chromosome 3p

50
Q

which gene and chromosome for cystic fibrosis

most common mutation

A

CFTR on chromosome 7

Phe508 deletion

51
Q 
trinucleotide rpts:
fragile X
Friedrich ataxia
huntingdon 
myotonic dystrophy
A

CGG
GAA
CAG
CTG

52
Q

AD dystrophy with CTG repeat

what is it and what gene is it

A

myotonic type 1 dystrophy

DMPK gene

53
Q

FMR1 gene

A

fragile X- CGG

Step 1- Biochem (6 decks)

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