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Step 1 2019 First Aid Flashcards > Biochem FA - p72 - 85 Metabolism > Flashcards

Biochem FA - p72 - 85 Metabolism Flashcards

1
Q

What is fomepizole used for?

How does it do that?

A

antidote For Overdoses of Methanol or Ethylene glycol

blocks alcohol DH

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2
Q

What causes the hangover symptoms of disulfiram?

A

Acetaldehyde buildup

Disulfiram blocks acetaldehyde dehydrogenase–> ^ acetaldehyde –> ^ hangover symptoms –> discouraging drinking.

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3
Q

What is the limiting reagent in ethanol metabolism?

A

NAD+

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4
Q

How does alcohol DH in terms of pharmacokenetics?

A

zero-order kinetics

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5
Q

What does the ^ NADH/NAD+ ratio caused by ethanol metabolism lead to?

A

Lactic acidosis

Fasting hypoglycemia

Ketoacidosis

Hepatosteatosis

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6
Q

Ethanol metabolism ^ NADH/NAD+ ratio in liver causes lactic acidosis - how?

A

^ pyruvate conversion to lactate

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7
Q

Ethanol metabolism ^ NADH/NAD+ ratio in liver causes fasting hypoglycemia - how?

A

low gluconeogenesis due to ^ OAA –> malate

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8
Q

Ethanol metabolism ^ NADH/NAD+ ratio in liver causes ketoacidosis - how?

A

via diversion of acetyl-CoA into ketogenesis rather than TCA cycle

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9
Q

Ethanol metabolism ^ NADH/NAD+ ratio in liver causes hepatosteatosis - how?

A

^ conversion of DHAP –> glycerol-3-P; acetyl-CoA diverges into fatty acid synthesis, which combines with glycerol-3-P to synthesize triglycerides

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10
Q

^ NADH/NAD+ ratio disfavors ___ _____ Where does the ^ acetyl-CoA go?

A

TCA cycle

^ acetyl-CoA used in ketogenesis (–>ketoacidosis), lipogenesis (–> hepatosteatosis)

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11
Q

Sites of metabolism

A

Mitochondria, cytoplasm

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12
Q

What metabolic processes occur in the mitochondria?

A

Fatty acid oxidation (β-oxidation)

acetyl-CoA production

TCA cycle

oxidative phosphorylation

ketogenesis

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13
Q

What metabolic processes occur in the cytoplasm?

A

Glycolysis

HMP shunt

synthesis of cholesterol (SER), proteins (ribosomes, RER), fatty acids, and nucleotides.

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14
Q

What metabolic processes occur in both the mitochondria and the cytoplasm?

A

Heme synthesis, Urea cycle, Gluconeogenesis

HUGs take two (both)

MC metabolism = UGH (get it mcdonalds ahahaha)

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15
Q

function of kinase + ex

A

Catalyzes transfer of a phosphate group from a high-energy molecule (usually ATP) to a substrate (eg, phosphofructokinase).

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16
Q

fxn of phosphorylase + ex

A

adds inorganic phosphate onto substrate without using ATP (eg, glycogen phosphorylase)

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17
Q

fxn of phosphatase + ex

A

Removes phosphate group from substrate (eg, fructose-1,6-bisphosphatase)

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18
Q

fxn of Dehydrogenase + ex

A

Catalyzes oxidation-reduction reactions (eg, pyruvate dehydrogenase).

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19
Q

fxn of Hydroxylase + ex

A

Adds hydroxyl group (−OH) onto substrate (eg, tyrosine hydroxylase).

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20
Q

fxn of Carboxylase + ex

A

Transfers CO2 groups with the help of biotin (eg, pyruvate carboxylase).

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21
Q

fxn of Mutase + ex

A

Relocates a functional group within a molecule (eg, vitamin B12–dependent methylmalonyl-CoA mutase

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22
Q

fxn of Synthase/synthetase + ex

A

Joins two molecules together using a source of energy (eg, ATP, acetyl-CoA, nucleotide sugar)

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23
Q

rate limiting enzyme of Glycolysis

A

Phosphofructokinase-1 (PFK-1)

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24
Q

regulators of glycolysis

A

AMP (+), F-2,6-BisP (+)

ATP (-), citrate (-)

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25
Q

rate limiting enzyme of gluconeogenesis

A

Fuctose-1,6-bisphosphatase

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26
Q

regulators of gluconeogenesis

A

citrate (+)

AMP (-), F-2,6-BisP (-)

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27
Q

rate limiting enzyme of TCA cycle

A

Isocitrate DH

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28
Q

regulators of TCA cycle

A

ADP (+)

ATP (-), NADH (-)

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29
Q

rate limiting enzyme of Glycogenesis

A

glycogen synthase

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30
Q

regulators of Glycogenesis

A

G-6-P (+), insulin (+), cortisol (+)

epi (-), glucagon (-)

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31
Q

rate limiting enzyme of glycogenolysis

A

glycogen phosphorylase

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32
Q

regulators of glycogenolysis

A

epi (+), glucagon (+), AMP (+)

G-6-P (-), insulin (-), ATP (-)

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33
Q

rate limiting enzyme of de novo pyrimidine synthesis

A

carbamoyl phosphate synthetase II

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34
Q

regulators of de novo pyrimidine synthesis

A

ATP (+), PRPP (+)

UTP (-)

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35
Q

rate limiting enzyme of de novo purine synthesis

A

glutamine-phosphoribosylpyrophosphate (PRPP) amidotransferase

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36
Q

regulators of de novo purine synthesis

A

AMP (-), inosine monophosphate (IMP) (-), GMP (-)

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37
Q

rate limiting enzyme of HMP shunt

A

Glucose-6-phosphate dehydrogenase (G6PD)

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38
Q

regulators of HMP shunt

A

NADP+ (+)

NADPH (-)

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39
Q

rate limiting enzyme of urea cycle

A

carbamoyl phosphate synthetase I

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40
Q

regulators of urea cycle

A

N-acetylglutamate (+)

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41
Q

rate limiting enzyme of Fatty acid synthesis

A

Acetyl-CoA carboxylase (ACC)

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42
Q

regulators of Fatty acid synthesis

A

insulin (+), citrate (+)

glucagon (-), palmitoyl-CoA (-)

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43
Q

rate limiting enzyme of Fatty acid oxidation

A

Carnitine acyltransferase I

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44
Q

regulators of Fatty acid oxidation

A

Malonyl-CoA (-)

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45
Q

rate limiting enzyme of Ketogenesis

A

HMG-CoA synthase

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46
Q

regulators of Ketogenesis

A

there are none listed haha tricked you have a wonderful day (^:

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47
Q

rate limiting enzyme of cholesterol synthesis

A

HMG-CoA reductase

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48
Q

regulators of cholesterol synthesis

A

insulin (+), thyroxine (+), estrogen (+) glucagon (-), cholesterol (-)

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49
Q
A
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50
Q

+ deficiency of (4) name?

Sx?

A

von Gierke disease (GSD I)

Severe fasting hypoglycemia,
^^ Glycogen in liver and
kidneys, ^ blood lactate,
^ triglycerides, ^ uric acid
(Gout), and hepatomegaly,
renomegaly. Liver does not
regulate blood glucose.

Glucose-6-phosphatase deficiency

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51
Q
A
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52
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53
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54
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55
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56
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57
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58
Q
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59
Q

Universal e(-) acceptors

A

Nicotinamides (NAD+, NADP+ from Vitamin B3)

Flavin nucleotides (FAD from Vitamin B2)

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60
Q

NADPH is a product of

A

HMP shunt

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61
Q

NADPH is used in:

A

Anabolic processes (eg steroid and FA synthesis)

Respiratory burst

CYP-450 system

Glutathione reductase

62
Q
A
63
Q
A
64
Q
A
65
Q
A
66
Q
A
67
Q
A
68
Q

Enzymes and cofactors of pyruvate dehydrogenase complex

A
  1. Thiamine pyrophosphate (B1)
  2. Lipoic acid
  3. CoA (B5, pantothenic acid)
  4. FAD (B2, riboflavin)
  5. NAD+ (B3, niacin)

Tender Loving Care For Nancy

69
Q

PDH activated by:

A

^ NAD+/NADH ratio

^ADP

^Ca2+

70
Q

What inhibits lipoic acid?

What clinical findings can be seen in its poisoning?

A

Arsenic inhibits lipoic acid. Arsenic poisoning clinical findings:

imagine a vampire (pigmentary skin changes, skin cancer), vomiting and having diarrhea, running away from a cutie (QT prolongation) with garlic breath.

71
Q

PDH complex deficiency leads to…

A

a buildup of pyruvate that gets shunted to lactate (via LDH) and alanine (via ALT).

X-linked.

72
Q

PDH complex deficiency findings

A

Neurologic defects, lactic acidosis, ^ serum alanine starting in infancy.

73
Q

PDH complex deficiency treatment:

A

^ intake of ketogenic nutrients (eg, high fat content or ^ lysine and leucine).

74
Q

Different pathways of pyruvate metabolism

(enzymes and cycle name)

A

<–ALT–> Alanine (Cahill cycle)

Alanine AminoTransferase

–PC–> OAA (TCA)

Pyruvate carboxylase

–PDH–> Acetyl CoA (TCA)

<–LDH–> Lactate (cori cycle)

75
Q

holy fuckkkkkkk TCA

A

pilanat?

76
Q

ETC and oxid’v phosphorylation

NADH e-‘s from _______ enter _______ via malate-aspartate or _____________________ shuttle

A

NADH electrons from glycolysis enter mitochondria via the malate-aspartate or glycerol-3-phosphate shuttle.

77
Q

_____ electrons are transferred to _______ __ (at a lower energy level than NADH). The passage of electrons results in the formation of a ______ ________ that, coupled to oxidative phosphorylation, drives the production of ___.

A

FADH2 electrons are transferred to complex II (at a lower energy level than NADH). The passage of electrons results in the formation of a proton gradient that, coupled to oxidative phosphorylation, drives the production of ATP.

78
Q

Oxidative phosphorylation poisons:

A

Electron transport inhibitors

ATP synthase inhibitors

Uncoupling agents

79
Q

how do electron transport inhibitors function?

A

Directly inhibit electron transport, causing a
dec proton gradient and block of ATP synthesis.

80
Q

ex of Electron transport inhibitors + loc of fxn

A

Rotenone: complex one inhibitor.

“An-3-mycin” (antimycin) A: complex 3 inhibitor.

Cyanide, carbon monoxide, azide (the -ides,
4 letters) inhibit complex IV.

81
Q

how do ATP synthase inhibitors fxn?

A

Directly inhibit mitochondrial ATP synthase, causing an ^ proton gradient. No ATP is produced because electron transport stops.

82
Q

ATP synthase inhibitor ex

A

Oligomycin

83
Q

how do uncoupling agents fxn?

A

^ permeability of membrane, causing a dec proton
gradient and ^ O2 consumption. ATP synthesis
stops, but electron transport continues.
Produces heat.

84
Q

ex of uncoupling agents

A

2,4-Dinitrophenol (used illicitly for weight loss),
aspirin (fevers often occur after overdose),
thermogenin in brown fat (has more
mitochondria than white fat).

85
Q

gluconeogenesis:

Occurs primarily in _____; serves to maintain euglycemia during _______. Enzymes also found in ______, _________ _______. Deficiency of the key gluconeogenic enzymes causes ___________.
(______cannot participate in gluconeogenesis because it lacks glucose-6-phosphatase).

A

gluconeogenesis:

Occurs primarily in liver; serves to maintain euglycemia during fasting. Enzymes also found in
kidney, intestinal epithelium. Deficiency of the key gluconeogenic enzymes causes hypoglycemia.
(Muscle cannot participate in gluconeogenesis because it lacks glucose-6-phosphatase).

86
Q

odd vs even chain FAs

A

Odd-chain fatty acids yield 1 propionyl-CoA during metabolism, which can enter the TCA cycle (as succinyl-CoA), undergo gluconeogenesis, and serve as a glucose source.

Even-chain fatty acids cannot produce new glucose, since they yield only acetyl-CoA equivalents.

87
Q
A
88
Q
A
89
Q

oxidizing agents that can lead to hemolytic anemia due to poor RBC defense against them

A

fava beans,
sulfonamides, nitrofurantoin, primaquine/
chloroquine, antituberculosis drugs).

90
Q

Essential fructosuria defect

A

fructokinase

91
Q

Essential fructosuria sx

A

fructose appears in blood and urine

92
Q

Hereditary fructose
intolerance deficiency

A

aldolase B

93
Q

Hereditary fructose
intolerance leads to..?

A

Fructose-1-phosphate accumulates,
causing a dec in available phosphate, which results in inhibition of glycogenolysis and
gluconeogenesis.

94
Q

hereditary fructose intolerance Sx

A

hypoglycemia, jaundice, cirrhosis, vomiting

Symptoms present following consumption of fruit, juice, or honey

95
Q

Hereditary fructose
intolerance Dx

A

Urine dipstick will be ⊝ (tests for glucose only); reducing sugar can be detected in the urine (nonspecific test for inborn errors of carbohydrate metabolism).

96
Q

Galactokinase deficiency defect, and leads to..?

A

galactokinase.

Galactitol accumulates if galactose is present in diet.

97
Q

Galactokinase
deficiency Sx

A

galactose appears in blood (galactosemia) and urine (galactosuria); infantile cataracts.
May present as failure to track objects or to develop a social smile. Galactokinase deficiency is
kinder (benign condition).

98
Q

Classic galactosemia, deficiency of?

A

galactose-1-phosphate uridyltransferase.

99
Q

Classic galactosemia damage caused by..?

A

Damage is caused by
accumulation of toxic substances (including galactitol, which accumulates in the lens of the eye).

100
Q

classical galactosemia Sx

A

Symptoms develop when infant begins feeding (lactose present in breast milk and routine formula)
and include failure to thrive, jaundice, hepatomegaly, infantile cataracts, intellectual disability. Can
predispose to E coli sepsis in neonates.

101
Q

classical galactosemia Tx

A

Treatment: exclude galactose and lactose (galactose + glucose) from diet.

102
Q

_____ —> Sorbitol —> ____

enz.s involved?

A

glucose —> Sorbitol —> fructose

enz.s involved: aldose reductase, sorbitol dh

103
Q

risk of intracellular sorbitol accumulation

A 
osmotic damage (eg cataracts, retinopathy, and
peripheral neuropathy seen with chronic hyperglycemia in diabetes).
104
Q

locations with both aldose reductase and sorbitol dehydrogenase

A

Liver, Ovaries, and Seminal vesicles have both enzymes (they LOSe sorbitol).

105
Q

locations with primarily/only aldose reductase

A

Lens has primarily aldose reductase. Retina, Kidneys, and Schwann cells have only aldose
reductase (LuRKS).

106
Q

Lactase function location + function

A

Lactase functions on the intestinal brush
border to digest lactose (in milk and milk products) into glucose and galactose.

107
Q

Causes of lactase deficiency

A

Primary: age-dependent decline after childhood (absence of lactase-persistent allele), common in people of Asian, African, or Native American descent.

Secondary: loss of intestinal brush border due to gastroenteritis (eg, rotavirus), autoimmune disease.

Congenital lactase deficiency: rare, due to defective gene.

108
Q

lactase defncy Dx

A

Stool demonstrates dec pH and breath shows INC hydrogen content with lactose hydrogen breath test.
Intestinal biopsy reveals normal mucosa in patients with hereditary lactose intolerance.

109
Q

lactase defncy Sx

A

bloating, cramps, flatulence, osmotic diarrhea

110
Q

lactase defncy Tx

A

Avoid dairy products or add lactase pills to diet; lactose-free milk

111
Q

essential Amino Acids

A

PVT TIM HaLL: Phenylalanine, Valine, Tryptophan, Threonine, Isoleucine, Methionine, Histidine, Leucine, Lysine.

112
Q

glucogenic amino acids

A

Methionine, histidine, valine. I met his valentine, she is so sweet (glucogenic).

113
Q

ketogenic amino acids

A

leucine, lysine.

The onLy pureLy ketogenic amino acids

114
Q

glucogenic/ketogenic amino acids

A

Isoleucine, phenylalanine, threonine, tryptophan.

115
Q

Acidic amino Acids

A

Aspartic acid, glutamic acid.
Negatively charged at body pH.

116
Q

Basic amino acids

A

Arginine, histidine, lysine.
Arginine is most basic. Histidine has no charge at body pH.
Arginine and histidine are required during periods of growth.
Arginine and lysine are  in histones which bind negatively charged DNA.
His lys (lies) are basic.

117
Q

WHAT THE FUCK IS THE UREA CYCLE

A

IT IS HOW WE REMOVE EXCESS NITROGEN HELL YES GO TEAM HOMO SAPIENS

118
Q

hyperammonemia, causes of?

A

Can be acquired (eg, liver disease) or hereditary
(eg, urea cycle enzyme deficiencies).

119
Q

hyperammonemia Sx

A

Presents with flapping tremor (eg, asterixis),
slurring of speech, somnolence, vomiting,
cerebral edema, blurring of vision.

120
Q

hyperammonemia leads to..

A 
^ NH3 depletes glutamate in the CNS, inhibits
TCA cycle (low α-ketoglutarate).
121
Q

hyperammonemia Tx

A

Treatment: limit protein in diet.
May be given to dec ammonia levels:
– Lactulose to acidify GI tract and trap NH4+ for excretion.
– Antibiotics (eg, rifaximin, neomycin) to dec ammoniagenic bacteria.
– Benzoate, phenylacetate, or phenylbutyrate
react with glycine or glutamine, forming
products that are excreted renally.

122
Q

Ornithine
transcarbamylase
deficiency does what

A

Interferes with the body’s ability to eliminate ammonia.

Excess carbamoyl phosphate is converted
to orotic acid (part of the pyrimidine synthesis pathway).

123
Q

Ornithine
transcarbamylase
deficiency findings

A 
Findings: ^ orotic acid in blood and urine, Inc BUN, symptoms of hyperammonemia. No
megaloblastic anemia (vs orotic aciduria).
124
Q
A
125
Q
A
126
Q
A
127
Q
A
128
Q
A
129
Q
A
130
Q

Causes of Phenylketonuria

A

Due to dec phenylalanine hydroxylase or
dec tetrahydrobiopterin (BH4) cofactor
(malignant PKU). Tyrosine becomes essential.
^ phenylalanine –> ^ phenyl ketones in urine.

131
Q

PKU findings

A

intellectual disability, growth
retardation, seizures, fair complexion, eczema,
musty body odor.

Disorder of aromatic amino acid metabolism
-> musty body odor.

132
Q

PKU Tx

A

low phenylalanine and ^ tyrosine in
diet, tetrahydrobiopterin supplementation.

PKU patients must avoid the artificial sweetener
aspartame, which contains phenylalanine.

133
Q

Maternal PKU

cause and findings in infant

A

lack of proper dietary therapy during pregnancy.

Findings in infant: microcephaly, intellectual disability, growth retardation, congenital heart defects.

134
Q

Maple syrup urine disease

cause of and leads to..?

A

Blocked degradation of branched amino
acids (Isoleucine, Leucine, Valine) due to
low branched-chain α-ketoacid dehydrogenase
(B1). Causes ^ α-ketoacids in the blood,
especially those of leucine.

135
Q

MSUD Sx

A

Presentation: vomiting, poor feeding, urine
smells like maple syrup/burnt sugar. Causes
severe CNS defects, intellectual disability,
death.

136
Q

MSUD Tx

A

restriction of isoleucine, leucine, valine in diet, and thiamine supplementation.

137
Q

Alkaptonuria defncy

A

Congenital deficiency of homogentisate oxidase in the degradative pathway of tyrosine to fumarate
-> pigment-forming homogentisic acid builds up in tissue

138
Q

Alkaptonuria findings

A

Findings: bluish-black connective tissue, ear cartilage, and sclerae (ochronosis); urine turns black on prolonged exposure to air.

May have debilitating arthralgias (homogentisic acid toxic to cartilage).

139
Q

causes of homocystinuria

A
  • Cystathionine synthase deficiency
  • low affinity of cystathionine synthase for pyridoxal phosphate
  • Methionine synthase (homocysteine methyltransferase) deficiency
  • Methylenetetrahydrofolate reductase (MTHFR) deficiency
140
Q

Homocystinuria Sx

A

HOMOCYstinuria: ^^ Homocysteine in urine, Osteoporosis, Marfanoid habitus, Ocular changes (downward and inward
lens subluxation), Cardiovascular effects (thrombosis and atherosclerosis -> stroke and MI), kYphosis, intellectual disability, fair complexion. In homocystinuria, lens subluxes “down and in” (vs Marfan, “up and fans out”).

141
Q

Cystathionine synthase deficiency
treatment

A

low methionine, ^ cysteine, ^ B6, B12, and folate in diet

142
Q

low affinity of cystathionine synthase for
pyridoxal phosphate treatment

A

^^ B6 and ^ cysteine in diet

143
Q

Methionine synthase (homocysteine methyltransferase) deficiency treatment

A

^ methionine in diet

144
Q 
Methylenetetrahydrofolate reductase (MTHFR)
deficiency treatment
A

^ folate in diet

145
Q

Cystinuria is a heriditary defect of ___ and ______ that prevents reabsorption of ____, ____, ____, and ____.

A

Cystinuria is a hereditary defect of renal PCT and intestinal amino acid transporter that prevents reabsorption of Cystine, Ornithine, Lysine, and Arginine (COLA).

146
Q

Excess cystine in the urine can lead torecurrent
precipitation of _____ _____ _____

A

Excess cystine in the urine can lead to recurrent
precipitation of hexagonal cystine stones

147
Q

Cystinuria treatment

A

Treatment: urinary alkalinization (eg, potassium citrate, acetazolamide) and chelating agents (eg, penicillamine) ^ solubility of cystine stones; good hydration.

148
Q

Propionic acidemia is a deficiency of..?

A

Autosomal recessive deficiency of propionyl-
CoA carboxylase -> ^ propionyl-CoA, low methylmalonic acid.

149
Q

Propionic acidemia Sx

A

poor feeding, vomiting, hypotonia,
anion gap metabolic acidosis, hepatomegaly,
seizures.

150
Q

Propionic acidemia Tx

A

low protein diet that does not
include isoleucine, methionine, threonine,
valine

151
Q

Substances that metabolize into propionyl-CoA

A

Substances that metabolize into propionyl-CoA
cause you to VOMIT:

Valine

Odd-chain fatty acids

Methionine

Isoleucine

Threonine.

Step 1 2019 First Aid Flashcards (63 decks)

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