First Aid Biochem Flashcards

1
Q

apolipoproteins

A

chylomicron has all but B100
LDL has only B100

HDL has EAC “east australian current”
IDL has E, b100 “eee, 1111, iiii”
VLDL has EC b100 “ez $100”
remnant has E.B. 48 “remains 40 yo EB White”

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2
Q

Hyper-chylomicronemia (type 1)

A

AR

lipoprotein lipase or CII defect

no increased risk of atherosclerosis

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3
Q

Familial hypercholesterolemia

A

corneal arcus
tendon xanthomas

AD defect LDL-R
AA has 700 mg/dL, Aa has 300 mg/dL

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4
Q

vitamin D synthesis requires

A

cholesterol

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5
Q

HMG CoA reductase function

A

HMG CoA to mevalonate

statins inhibit competitively and reversibly

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6
Q

gluconeogenesis sources

A

lactate
alanine
glycerol
propionyl-CoA

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7
Q

FAS

A

citrate shuttle from mitochondrial matrix to cytoplasm for FAS using ATP citrate lyase (acetyl CoA), add biotin CO2 (malonyl CoA), then make palmitate

in liver, mammary lactating, adipose

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8
Q

LCFA degradation

A

Fatty acid CoA synthase

needs carnitine shuttle INTO mitochondrial matrix, inhibited by malonyl CoA

then B oxidation via acyl-CoA-dehydrogenases to acyl CoA

acyl CoA to both ketones and TCA cycle

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9
Q

medium chain acyl-CoA deficiency

systemic primary carnitine deficiency

A

AR, accumulate 8-10 C acyl-carnitines, get hypoketotic hypolycemia. Young child with vomiting, seizures, liver dysfunction. Minor illness causes death. Avoid fasting!

can’t transport LCFA into mitochondria. Toxic accumulation. Weakness, hypotonia, and hypoketotic hypoglycemia.

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10
Q

shunting toward ketone bodies

A

prolonged starvation, DKA lose OAA to gluconeogenesis

Alcoholism excess NADH leads to OAA becoming malate

both cause excess acetyl-CoA

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11
Q

XR lysosomal storage disease

A

Fabry disease and Hunter syndrome

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12
Q

aseptic necrosis of femur, pancytopenia, megaly, bone crisis, osteoporosis

A

Gaucher disease

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13
Q

onion skinning lysosomes, no hepatosplenomegaly

A

Tay Sachs

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14
Q

optic atrophy, globoid cells

A

Krabbe disease

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15
Q

dementia, ataxia lysosomal storage disease

A

metachromatic leukodystrophy

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16
Q

gargoylism, airway obstruction

A

Hurler Syndrome

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17
Q

accumulated cerebroside sulfate

A

metachromatic leukodystrophy

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18
Q

accumulated galactocerebroside

A

Krabbe disease

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19
Q

Deficient iduronate sulfatase

A

Hunter syndrome

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20
Q

Deficient a-L-iduronidase

A

Hurler syndrome

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21
Q

Deficient B-glucosidase

A

Gaucher disease

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22
Q

Deficient glucocerebrosidase

A

Gaucher disease

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23
Q

Deficient glucoce-6-phosphatase

A

Von Gierke disease

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24
Q

Deficient a-1,4-glucosidase

Deficient a-1,6-glucosidase

A

Pompe disease

Cori disease

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25
Q

Glycogen storage disease treated with B6

A

McArdle disease

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26
Q

Glycogen storage disease where must avoid fructose, galactose

A

Von Gierke disease

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27
Q

Glycogen storage disease with arrhythmias

A

McArdle disease, from electrolyte abnormalities

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28
Q

Debranching enzyme works on…

parts are…

A

limit dextrin = 1 to 4 residues left from glycogen phosphorylase

4-a-D-glucanotransferase
a-1,6-glucosidase

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29
Q

Cystinuria

A

COLA in PCT, gut

treatment is potassium citrate, acetazolamide to alkalinize urine, penicillamine to chelate, hydration

urinary cyanide-nitroprusside test is diagnostic

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30
Q

Causes of homocystinuria

A

Cystathione synthase deficiency (Tx less Met, more Cys, B12, folate)

Lack of affinity of CS for B6 (Tx in B6 and Cys)

Homocysteine methyltransferase deficiency, uses B12! (Tx increase Met)

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31
Q

maternal PKU

A

causes congenital heart defects

mental, growth retardation

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32
Q

maple syrup urine disease treatment

A

thiamine supplement

avoid Ile, Val, Leu

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33
Q

Neonate with poorly regulated respiration and temperature, delays

A

Carbamoyl phosphate synthetase I deficiency or cofactor N-acetylglutamate synthase deficiency (has hyperammonemia)

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34
Q

Hyperammonemia treatment

A

lactulose to acidify GI tract
rifaximin to decrease colonic bacterial production
benzoate or phenylbutyrate to bind AA

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35
Q

excess NH4 depletes

A

a-ketoglutarate, inhibiting TCA cycle

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36
Q

N’s in urea

A

NH3 and aspartate

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37
Q

Cahill cycle

A

Alanine from muscle to liver becomes pyruvate via a-KG to Glu to urea, then pyruvate to glucose

Glucose back to muscle

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38
Q

aldose reductase

A

glucose to sorbitol
galactose to galactitol
requires NADPH

need sorbitol dehydrogenase to convert sorbitol to fructose, but missing in Scwann cells, retina, kidney, and low in lens

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39
Q

glucogenic amino acids

A

Met, Val, His

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40
Q

Fructose intolerance

A

aldolase B deficiency accumulating F1P

inhibits glycogenolysis and gluconeogenesis from P deficiency

hypoglycemia, jaundice, cirrhosis, vomiting

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41
Q

Classic galactosemia

A

can get infantile E coli sepsis

absent galactose-1-P uridyltransferase, which takes UDP from Glu, regenerates via 4-epimerase

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42
Q

pyruvate carboxylase location

A

mitochondria

activated by acetyl-CoA

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43
Q

glucose-6-phosphatase location

A

ER

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44
Q

PEPCK requires

A

GTP

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45
Q

Stimulates fructose-1,6-bisphosphatase

A

high citrate

low F2,6bisP

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46
Q

muscle lacks

A

glucose-6-phosphatase

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47
Q

TCA cycle makes per 1 acetyl CoA

A
3 NADH
1 FADH2  
2 CO2
1 GTP
= 10 ATP
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48
Q

pyruvate carboxylase

A

pyruvate to OAA

needs CO2, ATP

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49
Q

increased serum alanine in infant, lactic acidosis, neuro defects

A

pyruvate dehyrogenase complex deficiency

give fat, lysine, leucine

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50
Q

hexokinase, glucokinase regulation

A

G6P inhibits hexokinase

F6P inhibits glucokinase

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51
Q

glucokinase Vmax and Km

A

both higher

faster, less affinity

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52
Q

TPP carries

A

aldehydes

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53
Q

Arsenic

A

glycolysis makes 0 net ATP

inhibits lipoic acid

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54
Q

RLS of TCA cycle

A

isocitrate dehydrogenase
ADP +
ATP -
NADH -

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55
Q

CPS II regulation

A

UTP -

ATP +

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56
Q

citrate regulatory

A

inhibits PFK1

stimulates acetyl-CoA carboxylase

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57
Q

FA oxidation RLS

A

Carnitine acyltransferase 1

Malonyl CoA -

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58
Q

In mitochondria

A

B oxidation - acetyl CoA production
TCA cycle - oxidative phosphorylation
ketogenesis

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59
Q

Etiology of alcoholic fatty liver

A

DHAP + NADH –> Glycerol-3-P, which makes TAG with FA

high NADH disfavors TCA, leads to acetyl-CoA excess

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60
Q

vitamin K dependant

A

2,7,9,10
“1972”
and C, S

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61
Q

Vitamin deficiency causing less adult hair, loss of taste, loss of smell

A

zinc

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62
Q

Vitamin excess precipitates calcium oxalate nephrolithiasis

A

vitamin C

also can cause Fe toxicity

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63
Q

Vitamin excess seen in granulomatous disease

A

vitamin D, activation by epithelioid macrophages

64
Q

Vitamin deficiency causes acanthosis

A

vitamin E

65
Q

Vitamin deficiency causes PC and spinocerebellar degeneration

A

vitamin E

66
Q

B12 needed for

A

homocysteine to methionine

methylmalonyl CoA to succinyl CoA

67
Q

B6 needed for

A

homocysteine to cysteine
succinyl CoA to heme
glycogen phosphorylase

cystathione, niacin, histamine
5HT, E, NE, dopamine, GABA

68
Q

causes biotin deficiency

A

Abx

avidin

69
Q

causes B6 deficiency

A

isoniazid

OCP

70
Q

B6 deficiency causes

A

sideroblastic anemia, convulsions

neuropathy

71
Q

niacin B3 synthesis requires

A

B2 and B6

72
Q

niacin excess

A

prostaglandin mediated flushing
hyperglycemia
hyperuricemia

73
Q

B1 needed for

A

branched chain ketoacid dehydrogenase
transketolase (RBC test for deficiency diagnosis)
a-KG DH
pyruvate DH

74
Q

vitamins stored in liver

A

B12

folate

75
Q

cri-du-chat causes…

A

VSD
epicanthal folds
microcephaly

76
Q

Williams syndrome

A

hypercalcemia receptive to vit D
elvin
cardiovascular problems

77
Q

chromosome for:
Friedrich ataxia
Wilms tumor
Wilson disease

A

9
11
13

78
Q

increased nuchal translucency

A

Patau, Down

79
Q

increased B-HCG

A

Down

80
Q

increased inhibin A

A

Down

81
Q

Patau syndrome

A

cutis aplasia
micropthalmia
microcephaly

82
Q

ADPKD chromosomes

A

chr 4 - PKD2

chr 16 - PKD1 (85%)

83
Q

Fragile X syndrome has

A

mitral valve prolapse
post-pubertal macroorchidism
autism

= methylation of FMR1 gene

84
Q

Myotonic dystrophy type 1

A

DMPK gene
cataracts, frontal balding, arrhythmia,
testicular atrophy

CTG

85
Q

Duchenne

A

actin binding to a/B-dystroglycan

increase in CPK
increase in aldolase

frameshift mutation

86
Q

Becker

A

non-frameshift mutation

87
Q

OTC deficiency

A

XR

88
Q

Thalassemia

A

AR

89
Q

Hemochromatosis

A

AR

90
Q

Kartagener syndrome

A

AR

91
Q

Ocular albinism

A

XR

92
Q

Albinism

A

AR

93
Q

Wilson disease

A

AR

94
Q

Cystic fibrosis diagnosis

A

Cl >60 mEq/L in sweat = Dx
contraction alkalosis and hypokalemia
increase in immunoreactive trypsinogen

95
Q

AD

A
Li-Fraumeni
MEN
Hereditary hemorrhagic telangectasia (Osler Weber Rendu)
Hereditary spherocytosis
Tuberous sclerosis
96
Q

Li-Fraumeni

A

SBLA

sarcome, breast, leukemia, adrenal gland

97
Q

FBN1 mutation

A

Marfan syndrome, chr 15

upward lens subluxation

98
Q

RET gene

A

MEN2A, 2B

99
Q

Huntington NT changes

A

increase dopamine
decrease GABA
decrease ACh

100
Q

Lisch nodules

A

iris hamartomas in NF1

101
Q

XD disease

A

hypophosphatemic rickets

vitamin D resistant, P wasting at PT

102
Q

Uniparental disomy percent in Prader-Willi, Angelman

A

Prader-Willi - 25% maternal UPD

Angelman - 5% paternal UPD

103
Q

frequency of XR in males

frequency of XR in females

A

q

q^2

104
Q

McCune-Albright syndrome

A
G-protein signaling mutation
unilateral cafe-au-lait
polyostotic fibrous dysplasia
precocious puberty
endocrine abnormalities

lethal if mutation before fertilization
survivable if mosiacism

105
Q

locus heterogeneity

A

albinism

106
Q

allelic heterogeneity

A

B-thalassemia

107
Q

Codominance

A

a-1-AT deficiency

108
Q

Dominant negative mutation

A

TF mutated in allosteric site still can bind DNA, blocking wild-type binding

109
Q

Cre-lox system

A

manipulate genes at developmental points

110
Q

RNA interference uses

A

dsDNA

111
Q

Southwestern blot

A

oligonucleotide probles

DNA-binding-protein target

112
Q

can detect copy number variations

A

microarray

113
Q

Menkes disease

A

XR
connective tissue disease of impaired copper absorption, less activity of lysyl oxidase

defective Menkes protein ATP7A

kinky hair, growth retardation, hypotonic
“Alan Menken’s Genie”

114
Q

Classical Ehler-Danlos

A

Type V collagen

115
Q

Collagen content

A

1/3 glycine

made, hydroxylated, glycosylated in RER

116
Q

Procollagen

A

triple helix of alpha chains with H bonds and disulfides

helix issue? osteogenesis imperfecta

117
Q

Problem with cross-linking collagen into fibrils

A

Ehler Danlos

Menkes disease

118
Q

Ouabain

A

inhibits by binding to K site of Na/K pump

119
Q

Na/K pump phosphorylated

A

3 Na out

120
Q

collagen in cornea

A

Type 1

121
Q

collagen in nucleus pulposis

A

Type 2

122
Q

collagen in lens

A

Type 4

123
Q

collagen in fascia

A

Type 1

124
Q

collagen in dentin

A

Type 1

125
Q

Bound to a-B-tubulin dimer

A

2 GTP

126
Q

I cell disease

A

defect in N-acetylglucosaminyl-1-phosphotransferase

less mannose-6-phosphate

leads to extracellular secretion instead of to lysosomes, high plasma levels of lysosomal enzymes

127
Q

To target RER

A

SRP

128
Q

To target cis-Golgi from ER

A

COPII

129
Q

trans-Golgi to lysosomes

A

clathrin

130
Q

Golgi to Golgi

A

COPI

131
Q

cis-Golgi to ER

A

COPI

132
Q

peroxisome

A

breakdown VLCFA, branched chain FA, AA

133
Q

rich in RER

A

goblet cells of SI

plasma cells - Ab

134
Q

rich in SER

A

hepatocytes
steroid hormone producing cells
-adrenal cortex, gonads

135
Q

Labile tissue

A

No G0 phase

BM, gut surface, skin, follicles, germ cells

136
Q

stable tissues

A

can stimulate to enter G1 from G0

liver, lymphocytes

137
Q

tRNA parts

A
T arm binds ribosome
D arm recognizes correct aatRNAsynthetase
5' CCA 3'
5' CAU 3' binds AUG
75-90 AA
138
Q

anti-Smith antibodes

A

Ab to spliceosomal snRNPs

highly specific for lupus

139
Q

abnormal splicing

A

B-thalassemia

140
Q

a-amanitin

A

inhibits RNA pol II (mRNA)

severe hepatotoxicity

141
Q

cytoplasmic P-bodies

A

mRNA quality control
exonucleases, decapping enzymes, microRNAs

can store mRNA too

142
Q

enhancer binds

A

transcription factors

can be near, far, or in an intron

143
Q

fMet

A

prokaryotes

144
Q

mutated in ataxia telangectasia and Fanconi anemia

A

nonhomologous end joining

145
Q

MMR phase

A

G2

146
Q

BER phase

A

throughout

uses AP endonuclease to cleave 5’
uses lyase to cleave 3’
DNA pol beta and ligase fill

147
Q

NER phase

A

G1

148
Q

cAMP level needed for lac operon

A

high (from low glucose)

149
Q

3’ to 5’ exonuclease

A

DNA pol III (prokaryotic only)

leading and lagging elongation, initiates

150
Q

5’ to 3’ exonuclease

A

DNA pol I for primase activity (prokaryotic only)

leading and lagging elongation

151
Q

telomerase

A

RNA dep DNA pol

152
Q

Adenosine deaminase deficiency

A

AR SCID

excess dATP, ATP feedback inhibit ribonucleotide reductase

153
Q

tryptophan

A

UGG

154
Q

ribavirin

A

inhibits IMP dehydrogenase (like mycophenolate)

155
Q

leflunamide

A

inhibits dihydrooratate dehydrogenase

156
Q

pyrimethamine

A

inhibits DHF-reductase

decrease dTMP

157
Q

histone methylation

A

usually inhibits transcription