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pathophysiology > MAPUD > Flashcards

MAPUD Flashcards

1
Q

maple syrup urine disease is a

A

rare autosomal recessive disease

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2
Q

MSUD categorized as

A

metabolic and catabolic disorder

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3
Q

two parts of metabolism

A

anabolism

catabolism

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4
Q

anabolism

A

building molecules

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5
Q

catabolism

A

breaking apart molecules

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6
Q

in mos cases, symtoms of MAPUD begin

A

a few days after birth.

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7
Q

the primary diagnostic symptom of MAPUD

A

urine with a distinct sweet aroma , like maple syrup

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8
Q

MSUD affects how many births

A

1 in 150,000 births

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9
Q

because MSUD is recessive

A

both copes of a gene must be faulty

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10
Q

MSUD is a

A

trimer

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11
Q

three genes that could be faulty in MSUD

A

one on chromosome 19
one one chromosome 6
one on chromosome 1

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12
Q

msud gene on chromosome 19

A

BCKDHA

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13
Q

BCKDHA makes what

A

E1-a protein

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14
Q

msud gene on chromosome 6

A

BCKDHB

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15
Q

BCKDHB makes what

A

E1-B protein

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16
Q

msud gene on chromosome 1

A

DBT- makes E2 proteins

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17
Q

E1-α, E1-β, and E2 come together to form

A

a trimeric enzyme

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18
Q

what trimeric enzyme does

E1-α, E1-β, and E2 form

A

branched-chain alpha-keto acid dehydrogenase

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19
Q

important note for MSUD

A

does not follow dominant-negative gene action

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20
Q

it has been proposed that BCKD has

A

4 subunits, not 3

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21
Q

BCKD

A

branched-chain alpha-keto acid dehydrogenase

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22
Q

TO GET MSUD YOU MUST

A

inherit two faulty versions of the same chromosome

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23
Q

_______ catalyzes an irreversible step of the breakdown of three “branched chain” amino acids

A

Branched-chain α-keto acid dehydrogenase

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24
Q

what branched amino acids are catalyzed by Branched-chain α-keto acid dehydrogenase

A

valine, leucine, isoleucine

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25
Q

the breakdown of the thee “branched chain” amino acids is a

A

3 step of 4 step process

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26
Q

failure of BCKD leads to

A

excess amount of the three amino acids

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27
Q

failure of BCKD leads to byproduct…

A

alpha-keto acids

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28
Q

keto-acids have

A

a before the name

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29
Q

mostly, what are valine, leucine, isoleucine used

A

they are usually used to build the body’s own amino acids

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30
Q

valine, leucine, isoleucine are brok en..

A

apart for energy in certain instances

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31
Q

what instances are valine, leucine, isoleucine broken down

A
  • starvation/fasting
  • fighting illness
  • body consumed too much protein
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32
Q

almost all pieces of the breakdown of valine, leucine, isoleucine

A

end of falling into the Krebs cycle

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33
Q

what is the Krebs cycle

A

the complex process in which a cell produces energy from glucose

34
Q

since pieces of breakdown of valine, leucine, isoleucine join…

A

join cycle late, means they dont generate as much energy as the sugar

35
Q

Krebs cycle is responsible for

A

for energy production of cells

36
Q

what are the krebs cycle pieces that come from the keto acids

A

Acetyl-CoA, Succinyl-CoA

37
Q

when valine, isoleucine and their alpha-keto acids accrue in the bloodstream…

A

they move into cells

38
Q

when valine, isoleucine and their alpha-keto acids accrue in the bloodstream and move into cells

A

it is toxic for cells, ecspecially nerve cells `

39
Q

when the amino acids and their alpha-keto acids move into cells, why is it toxic?

A

three amino acids and keto acids block entry of other amino acids into the brain (much like in PKU)

40
Q

having too much of the three amino acids and not enough of the rest leads to

A

temporary mental retardation, impaired motor control, seizures `

41
Q

the extra byproducts (keto acids) are someties broken down to

A

to form sotolon

42
Q

what is sotolon

A

a small chemical that smells strongly of maple syrupor fenugreek

43
Q

how is sotolon excreted

A

through urine

44
Q

amino acid breakdown is almost completely carried out where

A

in the mitochondria of liver cells

45
Q

1 of the cures for MSUD

A

complete liver transplant `

46
Q

why can a complete liver transplant cure MSUD

A

the new transplant cells do not carry the mutation, and can produce E1-a, E1-b, and E2 correctly

47
Q

before a liver transplant, people w/ MSUD must

A

closely monitor their diets to avoid protein

48
Q

why must ppl w/ MSUD closely monitor their diets to avoid protein before a liver transplant

A

they should have just enough valine, leucine, and isoleucine to produce their proteins

49
Q

ppl w/ MSUD undergoing a liver transplant must also

A

avoid going into starvation mode, usually eat MSUD diet powder

50
Q

why avoid going into starvation mode (MSUD transplant)

A

so the body dosen’t break down protein for energy, it must stay in first gear and break down carbohydrates constantly

51
Q

classifications of MSUD

A

Acute MSUD, Intermediate MSUD, Intermittent MSUD

52
Q

Acute MSUD

A

two amorphic or severe hypomorphic mutations inherited for any one of the pieces f the trimer

53
Q

In acute MSUD symptoms are

A

present almost immediately after birth and results in death within the first few months of life unless treated immediately

54
Q

severe hypomorphic

A

less than 8% function

55
Q

intermediate MSUD

A

one piece of the trimer receives two hypomorphic (8-15% function) mutations.

56
Q

in intermediate MSUD, function of the trimer

A

is slow, but still work `

57
Q

in intermediate MSUD, symptoms begin

A

in childhood, but when depends on how hypomorphic and patients diet

58
Q

phosphorylation

A

adding a phosphate group to the R-chain

59
Q

phosphorylations generally turn proteins

A

on or off

60
Q

phosphorylations are almost always

A

reversible

61
Q

kinase

A

an enzyme that adds a phosphate group

62
Q

phosphatase

A

enzyme that removes a phosphate group

63
Q

kinase and phosphate can both be

A

on or off switch

64
Q

less extreme forms of MSUD exist

A

in mutations of 2 other genes BCKDK and BCKDP `

65
Q

BCKDK does what

A

codes for BCKD kinase

66
Q

what does BCKD kinase do

A

adds a PO4 to the -3 to BCKD

67
Q

BCKDP does what

A

codes for BCKD phosphatase

68
Q

what does BCKD phosphatase do

A

removes a PO4 to the -3 from BCKD

69
Q

in the liver,

A

BCKDK gene is expressed in cells at very low rates compared to other cells

70
Q

Why does BCKDK code for the off switch (remember it is expressed at low rates)

A

the liver is the main site of branched-chain amino acid breakdown» we want this enzyme ON in the liver - so the OFF switch will be expressed at low rates here» its the off switch`

71
Q

BCKDP – when it suffers a hypomrphic mutation

A
  • similar symptoms to intermittent MSUD

- when the liver needs to turn on all of its inactive copies of BCDK, it can’t

72
Q

what happens when inactive copies of BCDK can’t be turned on

A

leucine, isoleucine, valine and their keto-acids build up in the body, leading to a short period of MSUD symptoms

73
Q

after a period of time with inactive BCKD

A

liver cells produce completely new BCDK trimers that aren’t off yet, patient returns to normal

74
Q

BCKD phosphatase turns

A

BCKD on

75
Q

BCKD kinase turns

A

BCKD on

76
Q

when BCKDK suffers a hypomorphic mutation

A

opposite of MSUD

77
Q

opposite of MSUD

A

instead of BCDK not working it works too much

78
Q

result of opposite of MSUD

A

branched chain amino acids are broken down instead of being used to build proteins

79
Q

big symptom of opposite of MSUD

A

cachexia

80
Q

what is cachexia

A

“wasting away”

the loss of muscle mass and/or the failure to add new muscle mass

81
Q

Intermittent MSUD

A

Like intermediate, trainer functions at 8-15% efficiency

82
Q

Intermittent MSUD symptoms

A

Episodes rare, life can be normal w a proper diet. Episodes often accompany infections

pathophysiology (24 decks)

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