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1

vitamins that can have excess/toxicity

water: B3, C; fat: A, D

2

bitot spots are caused by vitamin deficiency/excess

A deficiency

3

pseudotumor cerebri in this vitamin def/xs

A excess

4

hepatic toxicity in this vitamin def/xs

A excess

5

beriberi in this vitamin def/xs

B1 deficiency

6

manifestations of beriberi

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

7

how to dx B1 deficiency

increased transketolase activity after b1 administration

8

cheilosis in this vitamin def/xs

B2 (riboflavin) deficiency

9

this vitamin def mimics tryptophan def

B3/niacin

10

glossitis and pellagra in this vit def/xs

B3/niacin deficiency

11

Hartnup disease can cause this vitamin def/xs

B3/niacin deficiency

12

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

B3/niacin excess. note: given to lower cholesterol

13

this vitamin is important for co-enzyme A function

B5/pantothenic acid

14

INH and OCPs induce this vitamin def/xs

B6/pyridoxine deficiency

15

neurologic complications and sideroblastic anemia in this vitamin def/xs

B6/pyridoxine deficiency

16

this vitamin is important for carboxylation enzymes

B7/biotin

17

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

biotin deficiency (rare). similar sx to B5 def

18

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

B9/folate deficiency

19

calcium oxalate nephrolithiasis in this vitamin def/xs

C excess

20

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

C excess

21

def/xs can be seen in granulomatous diseases

D excess

22

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

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

23

neonates are injected at birth with this vitamin

K. to prevent hemorrhagic disease

24

deficiency in this can cause decreased adult hair

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

25

fomepizole MOA

inhibits alcohol dehydrogenase. antidote for methanol or ethylene glycol

26

disulfiram inhibits

acetylaldehyde dehydrogenase

27

RDS glycolysis

phosphofructokinase-1 (converts F6P to F16BP)

28

RDS gluconeogenesis

fructose-1,6-bisphosphatase

29

RDS TCA cycle

isocitrate dehydrogenase

30

RDS glycogenesis

glycogen synthase

31

RDS glycogenolysis

glycogen phosphorylase

32

RDS HMP shunt

G6PD

33

RDS de novo pyrimidine synthesis

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

34

RDS de novo purine synthesis

PRPP

35

RDS urea cycle

carbamoyl phosphate synthetase I

36

RDS fatty acid synth

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

37

RDS fatty acid oxidation

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

38

RDS ketogenesis

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

39

RDS cholesterol synthesis

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

40

Hexokinase vs. glucokinase: tissue

glucokinase in liver and beta cells

41

Hexokinase vs. glucokinase: Km and Vmax

glucokinase has a high Km and high Vmax

42

Hexokinase vs. glucokinase: feedback inhibition

hexokinase is inhibited by G6P

43

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

glucokinase

44

FBPase-2 promotes

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

45

PFK-2 promotes

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

46

F26BP promotes

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

47

glucagon effect on cAMP

increases

48

insulin effect on cAMP

decreases

49

cofactors required for pyruvate dehydrogenase

B1, B2, B3, B5, lipoic acid

50

name intermediates, in order, of TCA

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

51

CO2 is generated after these steps of TCA

after iso citrate and after aKG

52

ETC inhibitor(s)

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

53

ATP synthase inhibitor(s)

oligomycin

54

ETC-ATP uncoupling agent(s)

2,4-dinitrophenol, aspirin, thermogenin

55

which chains (even or odd) can lead to gluconeogenesis

odd chains

56

def. in fructose intolerance

aldolase B (converts F1P into DHAP and glyceraldehyde)

57

def. in classic galactosemia

galactose-1-phosphate uridyl transferase

58

essential glucogenic AAs

methionine, valine, histidine

59

essential ketogenic AAs

lysine, leucine

60

essential AAs for both glucogenesis and ketogenesis

isoleucine, phenylalanine, threonine, tryptophan

61

rifaximin MOA

decreases colonic ammoniagenic bacteria

62

these drugs bind to NH4+ and lead to excretion

benzoate, phenylacetate, phenylbutyrate

63

required co-factor for carbamoyl phosphate synthetase I

n-acetylglutamate

64

PKU def

phenyalanine hydroxylase (or BH4) which converts phe to tyr

65

Maple syrup urine disease def

branched-chain alpha-ketoacid dehydrogenase, which uses thiamine

66

what is ochoronosis

bluish-black sclera, caused by alkaptonuria

67

alkaptonuria deef

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

68

albinism def

tyrosinase, which converts DOPA to melanin

69

carbidopa MOA

blocks DOPA carboxylase, which converts DOPA to dopamine

70

enzyme that converts dopamine to nore

dopamine beta-hydroxylase

71

function of COMT

degrades nore into normetanephrine

72

cystinuria def

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

73

how to dx cystinuria

cyanide-nitroprusside test

74

tx cystinuria

alkalinization of urine, chelating agents

75

Von Gierke (dz #, deficiency, sx)

I. G6Pase. hypoglycemia, gout, lactate, triglycerides

76

Pompe (#, def, sx)

II. acid maltase. cardiomyopathy

77

Cori dz (#, def, sx)

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

78

McArdle dz (#, def, sx)

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

79

Fabry dz (def, sx)

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

80

Gaucher dz (def, sx)

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

81

Niemann-Pick dz (def, sx)

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

82

Tay-Sachs dz (def, sx)

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

83

Krabbe dz (def, sx)

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

84

metachromic leukodystrophy (def, sx)

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

85

3 pathways leading to ceramide

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

86

apo E function

remnant uptake. all but LDL

87

apo A-I function

activates LCAT. on HDL and chylomicrons

88

apo C-II function

LPL cofactor. on chylo, VLDL, and HDL

89

B-48 is only found in

intestines. chylo and chylo remnants

90

dyslipidemia I

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

91

dyslipidemia IIa

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

92

dyslipidemia IIb

both VLDL and LDL. overproduction

93

dyslipidemia III

IDL and chylomicrons. apo E deficiency

94

dyslipidemia IV

VLDL. overproduction. pancreatitis

95

dyslipidemia V

mixed VLDL and chylomicrons. rare

96

peripheral neuropathy, angiokeratomas, hypohidrosis
followed by progressive renal disease and CV disease

Fabry disease

97

MC lysosomal storage disease

Gaucher

98

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

Gaucher

99

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

Niemann-Pick

100

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

Tay-Sachs
Note: NO hepatosplenomegaly

101

peripheral neuropathy, developmental delay, optic atrophy, globoid cells

Krabbe disease

102

central and peripheral demyelination with ataxia, demetnia

metachromatic leukodystrophy

103

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

Hurler syndrome

104

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

Hunter syndrome
(the hurler sx are mild, and there is no corneal clouding)

105

iduronate sulfatase deficiency

Hunter syndrome

106

alpha-L-iduronidase deficiency

Hurler syndrome

107

alpha-galactosidase A deficiency

Fabry disease

108

arylsulfatase A deficiency

metachromatic leukodystrophy

109

galactocerebrosidase deficiency

Krabbe disease

110

glucocerebrosidase (beta-glucosidase) deficiency

Gaucher. Treat with recombinant glucocerebrosidase

111

sphingomyelinase deficiency

Niemann-Pick disease

112

hexosaminidase A deficiency

Tay-Sachs

113

glucocerebroside accumulates

Gaucher

114

Ceramide trihexoside accumulates

Fabry

115

sphingomyelin accumulates

Niemann-Pick

116

GM2 ganglioside accumulates

Tay-Sachs

117

galactocerebroside accumulates

Krabbe disease. psychosine also accumulates

118

cerebroside sulfate accumulates

metachromatic leukodystrophy

119

heparan sulfate, dermatan sulfate accumulate

happens in both Hunter and Hurler

120

psychosine accumulates

Krabbe. galactocerebroside also accumulates

121

findings in Fabry

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

122

findings in Krabbe

peripheral neuropathy, developmental delay, optic atrophy, globoid cells

123

findings in Tay-Sachs

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

Note: no hepatosplenomegaly (vs. Niemann Pick)

124

findings in metachromatic leukodystrophy

central and peripheral demyelination with ataxia, dementia

125

findings in Hunter syndrome

mild Hurler (except corneal clouding) + aggressive behavior

126

findings in Niemann-Pick

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

127

findings in Gaucher disease

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

128

findings in Hurler syndrome

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

129

enzyme deficiency Hurler

alpha-L-iduronidase

130

enzyme def Hunter

iduronate sulfatase

131

enzyme def Gaucher

glucocerebrosidase (beta-glucosidase)

132

enzyme def Niemann-Pick

sphingomyelinase

133

enzyme def Tay-Sachs

hexosaminidase A

134

enzyme def Fabry

alpha-galactosidase A

135

enzyme def Krabbe

galactocerebrosidase

136

enzyme def metachromatic leukodystrophy

arylsulfatase A

137

Hunter accumulation

heparan sulfate, dermatan sulfate

138

metachromatic leukodystrophy accumulation

cerebroside sulfate

139

Krabbe accumulation

galactocerebrosidase, psychosine

140

Tay-Sachs accumulation

GM2 ganglioside

141

Hurler accumulation

heparan sulfate, dermatan sulfate

142

Gaucher accumulation

glucocerebrosidase

143

Niemann-Pick accumulation

sphingomyelin

144

Fabry accumulation

ceramide trihexoside