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First Aid > Biochem: nutrition and metabolism > Flashcards

Biochem: nutrition and metabolism Flashcards

1
Q

vitamins that can have excess/toxicity

A

water: B3, C; fat: A, D

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2
Q

bitot spots are caused by vitamin deficiency/excess

A

A deficiency

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3
Q

pseudotumor cerebri in this vitamin def/xs

A

A excess

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4
Q

hepatic toxicity in this vitamin def/xs

A

A excess

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5
Q

beriberi in this vitamin def/xs

A

B1 deficiency

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6
Q

manifestations of beriberi

A

dry: polyneuritis, symmetrical muscle wasting
wet: high output cardiac failure (DCM), edema

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7
Q

how to dx B1 deficiency

A

increased transketolase activity after b1 administration

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8
Q

cheilosis in this vitamin def/xs

A

B2 (riboflavin) deficiency

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9
Q

this vitamin def mimics tryptophan def

A

B3/niacin

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10
Q

glossitis and pellagra in this vit def/xs

A

B3/niacin deficiency

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11
Q

Hartnup disease can cause this vitamin def/xs

A

B3/niacin deficiency

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12
Q

facial flushing (PG), hyperglycemia, and hyperuricemia in this vitamin def/xs

A

B3/niacin excess. note: given to lower cholesterol

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13
Q

this vitamin is important for co-enzyme A function

A

B5/pantothenic acid

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14
Q

INH and OCPs induce this vitamin def/xs

A

B6/pyridoxine deficiency

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15
Q

neurologic complications and sideroblastic anemia in this vitamin def/xs

A

B6/pyridoxine deficiency

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16
Q

this vitamin is important for carboxylation enzymes

A

B7/biotin

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17
Q

def/xs caused by antibiotics or excessive ingestion of raw egg whites

A

biotin deficiency (rare). similar sx to B5 def

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18
Q

def/xs caused by drugs such as phenytoin, sulfonamides, and methotrexate

A

B9/folate deficiency

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19
Q

calcium oxalate nephrolithiasis in this vitamin def/xs

A

C excess

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20
Q

increased risk of iron toxicity (in predisposed individuals) in this vitamin def/xs

A

C excess

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21
Q

def/xs can be seen in granulomatous diseases

A

D excess

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22
Q

hemolytic anemia, acanthocytosis, and neuro problems in this vitamin def/xs

A

E (tocopherol/tocotrienol) deficiency. neuro sx similar to B12 deficiency, but without megaloblastic anemia, hypersegmented neutrophils or elevated methylmalonic acid

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23
Q

neonates are injected at birth with this vitamin

A

K. to prevent hemorrhagic disease

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24
Q

deficiency in this can cause decreased adult hair

A

zinc deficiency. also delayed woudn healing, hypogonadism, acrodermatitis enteropathica. and may predispose to alcoholic cirrhosis

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25
Q

fomepizole MOA

A

inhibits alcohol dehydrogenase. antidote for methanol or ethylene glycol

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26
Q

disulfiram inhibits

A

acetylaldehyde dehydrogenase

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27
Q

RDS glycolysis

A

phosphofructokinase-1 (converts F6P to F16BP)

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28
Q

RDS gluconeogenesis

A

fructose-1,6-bisphosphatase

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29
Q

RDS TCA cycle

A

isocitrate dehydrogenase

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30
Q

RDS glycogenesis

A

glycogen synthase

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31
Q

RDS glycogenolysis

A

glycogen phosphorylase

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32
Q

RDS HMP shunt

A

G6PD

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33
Q

RDS de novo pyrimidine synthesis

A

carbamoyl phosphate synthetase II (first step, converts glutamine + CO2 to CP)

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34
Q

RDS de novo purine synthesis

A

PRPP

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35
Q

RDS urea cycle

A

carbamoyl phosphate synthetase I

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36
Q

RDS fatty acid synth

A

acetyl-CoA carboxylase (turns acetyl-CoA into malonyl-CoA)

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37
Q

RDS fatty acid oxidation

A

carnitine acyltransferase I (helps shuttle into/across mitocondrial membrane)

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38
Q

RDS ketogenesis

A

HMG-CoA synthase (converts acetyl-CoA into HMG-CoA)

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39
Q

RDS cholesterol synthesis

A

HMG-CoA reductase (converts HMG-CoA to mevalonate)

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40
Q

Hexokinase vs. glucokinase: tissue

A

glucokinase in liver and beta cells

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41
Q

Hexokinase vs. glucokinase: Km and Vmax

A

glucokinase has a high Km and high Vmax

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42
Q

Hexokinase vs. glucokinase: feedback inhibition

A

hexokinase is inhibited by G6P

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43
Q

Hexokinase vs. glucokinase: induced by insuline and associated with MODY

A

glucokinase

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44
Q

FBPase-2 promotes

A

gluconeogenesis. Turns F26BP (not part of main pathway) into F6P

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45
Q

PFK-2 promotes

A

glycolysis. Turns F6P into F26BP (not part of main pathway), which catalyzes conversion of F6P into F16BP (on the way to glycolysis)

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46
Q

F26BP promotes

A

conversion of F6P into F16BP (on the way to glycolysis)

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47
Q

glucagon effect on cAMP

A

increases

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48
Q

insulin effect on cAMP

A

decreases

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49
Q

cofactors required for pyruvate dehydrogenase

A

B1, B2, B3, B5, lipoic acid

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50
Q

name intermediates, in order, of TCA

A

citrate, isocitrate, aKG, succinyl-CoA, succinate, fumarate, malate, OAA

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51
Q

CO2 is generated after these steps of TCA

A

after iso citrate and after aKG

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52
Q

ETC inhibitor(s)

A

rotenone (I), antimycin (III), CO/CN (IV)

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53
Q

ATP synthase inhibitor(s)

A

oligomycin

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54
Q

ETC-ATP uncoupling agent(s)

A

2,4-dinitrophenol, aspirin, thermogenin

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55
Q

which chains (even or odd) can lead to gluconeogenesis

A

odd chains

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56
Q

def. in fructose intolerance

A

aldolase B (converts F1P into DHAP and glyceraldehyde)

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57
Q

def. in classic galactosemia

A

galactose-1-phosphate uridyl transferase

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58
Q

essential glucogenic AAs

A

methionine, valine, histidine

59
Q

essential ketogenic AAs

A

lysine, leucine

60
Q

essential AAs for both glucogenesis and ketogenesis

A

isoleucine, phenylalanine, threonine, tryptophan

61
Q

rifaximin MOA

A

decreases colonic ammoniagenic bacteria

62
Q

these drugs bind to NH4+ and lead to excretion

A

benzoate, phenylacetate, phenylbutyrate

63
Q

required co-factor for carbamoyl phosphate synthetase I

A

n-acetylglutamate

64
Q

PKU def

A

phenyalanine hydroxylase (or BH4) which converts phe to tyr

65
Q

Maple syrup urine disease def

A

branched-chain alpha-ketoacid dehydrogenase, which uses thiamine

66
Q

what is ochoronosis

A

bluish-black sclera, caused by alkaptonuria

67
Q

alkaptonuria deef

A

homogentisate oxidase, which converts homogentisic acid to maleylaetoacetic acid (tyrosine degradation other than catecholamine synthesis)

68
Q

albinism def

A

tyrosinase, which converts DOPA to melanin

69
Q

carbidopa MOA

A

blocks DOPA carboxylase, which converts DOPA to dopamine

70
Q

enzyme that converts dopamine to nore

A

dopamine beta-hydroxylase

71
Q

function of COMT

A

degrades nore into normetanephrine

72
Q

cystinuria def

A

kidney and intestinal transporters for cysteine, ornithin, lysine, arginine

73
Q

how to dx cystinuria

A

cyanide-nitroprusside test

74
Q

tx cystinuria

A

alkalinization of urine, chelating agents

75
Q

Von Gierke (dz #, deficiency, sx)

A

I. G6Pase. hypoglycemia, gout, lactate, triglycerides

76
Q

Pompe (#, def, sx)

A

II. acid maltase. cardiomyopathy

77
Q

Cori dz (#, def, sx)

A

III. debranching enzyme. milder form of von Gierke. Normal blood lactate levels and gluconeogensis is intact

78
Q

McArdle dz (#, def, sx)

A

V. SKM glycogen phosphorylase. muscle cramps, myoglobinuria, arrhythmia from electrolyte abnormalities

79
Q

Fabry dz (def, sx)

A

the only XR one. alpha-galactosidase A. accumulates ceramide trihexoside. early triad: peripheral neuropathy, angiokeratomas, hypohydrosis. late: progressive renal failure, CV disease

80
Q

Gaucher dz (def, sx)

A

glucocerebrosidase (beta-glucosidase. can tx w/ recombinant). accumulates glucocerebroside. hepatosplenomegaly, pancytopenia, osteoprosis, aseptic necrosis of femur, bone crises, gaucher cells

81
Q

Niemann-Pick dz (def, sx)

A

sphingomyelinase deficiency, sphingomyelin accmulates. progressive neurodegeneration, foam cells, cherry-red spot on macula, hepatosplenomegaly

82
Q

Tay-Sachs dz (def, sx)

A

hexosaminidase A def. GM2 ganglioside accumulates. progressive neurodegen, cherry-red spot, lysosomes with onion skin, developmental delay. NO hepatosplenomegaly (vs. Niemann-Pick)

83
Q

Krabbe dz (def, sx)

A

galactocerebrosidase, accumulates galactocerebroside and psychosine. peripheral neuropathy, developmental delay, optic atrophy, globoid cells

84
Q

metachromic leukodystrophy (def, sx)

A

arylsulfatase A. cerebroside sulfate accumulates. central and peripheral demyelination with ataxia, dementia

85
Q

3 pathways leading to ceramide

A

sphingomyelin
galactocereborisde (from sulfatides)
glucocerebroside (from GM2/3 and ceramide trihexoside)

86
Q

apo E function

A

remnant uptake. all but LDL

87
Q

apo A-I function

A

activates LCAT. on HDL and chylomicrons

88
Q

apo C-II function

A

LPL cofactor. on chylo, VLDL, and HDL

89
Q

B-48 is only found in

A

intestines. chylo and chylo remnants

90
Q

dyslipidemia I

A

chylomicrons. LPL or CII deficiency. pancreatitis. no risk for atherosclerosis

91
Q

dyslipidemia IIa

A

FH (AD). LDL accumulates. absent LDLR. atherosclerosis

92
Q

dyslipidemia IIb

A

both VLDL and LDL. overproduction

93
Q

dyslipidemia III

A

IDL and chylomicrons. apo E deficiency

94
Q

dyslipidemia IV

A

VLDL. overproduction. pancreatitis

95
Q

dyslipidemia V

A

mixed VLDL and chylomicrons. rare

96
Q

peripheral neuropathy, angiokeratomas, hypohidrosis

followed by progressive renal disease and CV disease

A

Fabry disease

97
Q

MC lysosomal storage disease

98
Q

hepatosplenomegaly, pancytopenia, osteoporosis, aseptic necrosis of femur, bone crises, lipid-laden macrophages

99
Q

progressive neurodegeneration, hepatosplenomegaly, foam cells, cherry red spot on macula

A

Niemann-Pick

100
Q

progressive neurodegeneration, cherry red spot on macula, developmental delay, onion skin lysosomes

A

Tay-Sachs

Note: NO hepatosplenomegaly

101
Q

peripheral neuropathy, developmental delay, optic atrophy, globoid cells

A

Krabbe disease

102
Q

central and peripheral demyelination with ataxia, demetnia

A

metachromatic leukodystrophy

103
Q

developmental delay, gargoylism, airway obstruction, corneal clouding, hepatosplenomegaly

A

Hurler syndrome

104
Q

aggressive behavior, mild developmental delay, gargoylism, airway obstruction, hepatosplenomegaly

A

Hunter syndrome

the hurler sx are mild, and there is no corneal clouding

105
Q

iduronate sulfatase deficiency

A

Hunter syndrome

106
Q

alpha-L-iduronidase deficiency

A

Hurler syndrome

107
Q

alpha-galactosidase A deficiency

A

Fabry disease

108
Q

arylsulfatase A deficiency

A

metachromatic leukodystrophy

109
Q

galactocerebrosidase deficiency

A

Krabbe disease

110
Q

glucocerebrosidase (beta-glucosidase) deficiency

A

Gaucher. Treat with recombinant glucocerebrosidase

111
Q

sphingomyelinase deficiency

A

Niemann-Pick disease

112
Q

hexosaminidase A deficiency

113
Q

glucocerebroside accumulates

114
Q

Ceramide trihexoside accumulates

115
Q

sphingomyelin accumulates

A

Niemann-Pick

116
Q

GM2 ganglioside accumulates

117
Q

galactocerebroside accumulates

A

Krabbe disease. psychosine also accumulates

118
Q

cerebroside sulfate accumulates

A

metachromatic leukodystrophy

119
Q

heparan sulfate, dermatan sulfate accumulate

A

happens in both Hunter and Hurler

120
Q

psychosine accumulates

A

Krabbe. galactocerebroside also accumulates

121
Q

findings in Fabry

A

early: episodic peripheral neuropathy, angiokeratomas
late: progressive renal failure, cardiovascular disease

122
Q

findings in Krabbe

A

peripheral neuropathy, developmental delay, optic atrophy, globoid cells

123
Q

findings in Tay-Sachs

A

progressive neurodegeneration, developmental delay, cherry-red spot on macula, lysosomes with onion skin

Note: no hepatosplenomegaly (vs. Niemann Pick)

124
Q

findings in metachromatic leukodystrophy

A

central and peripheral demyelination with ataxia, dementia

125
Q

findings in Hunter syndrome

A

mild Hurler (except corneal clouding) + aggressive behavior

126
Q

findings in Niemann-Pick

A

progressive neurodegeneration, hepatoslenomegaly, foam cells, cherry red spot on macula

127
Q

findings in Gaucher disease

A

hepatosplenomegaly, pancytopenia, osteoporosis, aseptic necrosis of femur, bone crises, Gaucher cells

128
Q

findings in Hurler syndrome

A

developmental delay, gargoylism, airway obstruction, corneal clouding, hepatosplenomegaly

129
Q

enzyme deficiency Hurler

A

alpha-L-iduronidase

130
Q

enzyme def Hunter

A

iduronate sulfatase

131
Q

enzyme def Gaucher

A

glucocerebrosidase (beta-glucosidase)

132
Q

enzyme def Niemann-Pick

A

sphingomyelinase

133
Q

enzyme def Tay-Sachs

A

hexosaminidase A

134
Q

enzyme def Fabry

A

alpha-galactosidase A

135
Q

enzyme def Krabbe

A

galactocerebrosidase

136
Q

enzyme def metachromatic leukodystrophy

A

arylsulfatase A

137
Q

Hunter accumulation

A

heparan sulfate, dermatan sulfate

138
Q

metachromatic leukodystrophy accumulation

A

cerebroside sulfate

139
Q

Krabbe accumulation

A

galactocerebrosidase, psychosine

140
Q

Tay-Sachs accumulation

A

GM2 ganglioside

141
Q

Hurler accumulation

A

heparan sulfate, dermatan sulfate

142
Q

Gaucher accumulation

A

glucocerebrosidase

143
Q

Niemann-Pick accumulation

A

sphingomyelin

144
Q

Fabry accumulation

A

ceramide trihexoside

First Aid (18 decks)

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