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FIRST AID > Biochem: metabolism > Flashcards

Biochem: metabolism Flashcards

1
Q

What processes take place in the mitochondria?

A

fatty acid (B) oxidation
acetyl CoA production
TCA production
oxidative phosphorylation

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2
Q

What processes take place in the cytoplasm?

A 
glycolysis
fatty acid synthesis
HMP shunt
protein synthesis (RER)
steroid synthesis (SER)
cholesterol synthesis
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3
Q

What processes take place in the cytoplasm and mitochondria?

A

heme synthesis
urea cycle
gluconeogenesis

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4
Q

What processes is NADPH used for?

A

anabolic processes
respiratory burst
P-450
glutathione reductase

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5
Q

What produces NADPH?

A

HMP shunt

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6
Q

What glycolytic enzymes require ATP?

A

hexokinase/glucokinase

phosphofructokinase**(rate limiting)

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7
Q

What glycolytic enzymes produce ATP?

A

phosphoglycerate kinase

pyruvvate kinase

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8
Q

What happens to FBPase2 and PFK 2 in the fasting state?

A

^glucagon, ^FBPase 2, less glycolysis

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9
Q

What happens to FBPase 2 and PFK 2 in the fed state?

A

^insulin, ^PFK 2, more glycolysis

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10
Q

What are the cofactors in the pyruvate dehydrogenase complex?

A
  1. pyrophosphate (B1;TPP)
  2. FAD (B2/riboflavin)
  3. NAD (B3/niacin)
  4. CoA (B5/pantothenic acid)
  5. Lipoic acid
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11
Q

What enzyme requies the same cofactors as PDH complex?

A

a KG dehydrogenase complex

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12
Q

Sx of arsenic poisoning?

A

inhibits lipoic acid

vomiting, rice water stools, garlic breath

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13
Q

What activates PDH complex?

A

exercise
^ NAD+/NADH ratio
^ADP
^Ca2+

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14
Q

What are sx of PDH complex deficiency?

A

neurologic defect

lactic acidosis

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15
Q

Tx for PDH complex def?

A

^intake of ketogenic nutrients (high fat, lysine, leucine)

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16
Q

What causes PDH complex def?

A

mutation in X linked gene for E1-a subunit of PDC

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17
Q

What reaction does PDH complex catalyze?

A

pyruvate –> acetyl coA

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18
Q

What does 2,4 dinitrophenol do?

A

uncouple oxidative phosphorylation

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19
Q

What inhibits complex 1?

A

rotenone

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20
Q

What inhibits comlex III?

A

antimycin A

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21
Q

What inhibits complex IV?

A

cyanide

CO

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22
Q

What inhibits complex V?

A

oligomycin

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23
Q

What are the elctron transport inhibitors?

A

rotenone, cyanide, antimycin A, CO

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24
Q

What is an ATP synthesis inhibitor?

A

oligomycin

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25
Q

What are some uncoupling agents?

A

2,4-DNP
Aspirin (fevers occur w/OD)
Thermogenin (in brown fat)

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26
Q

What are the irreversible enzymes of gluconeogenesis?

Location?

A

pyruvate carboxylase-mito
PEP carboxykinase-cyto
Fructose 1,6 bisphosphatase-cyto
Glucose 6 phosphatase-ER

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27
Q

Where does the HMP shunt take place (cell types)?

A

lactating mammary glands, liver, adrenal cortex, RBCs

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28
Q

What is glutathiones role?

A

detoxifies free radicals and peroxides

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29
Q

What causes essential fructosuria? Inheritance? Sx?

A

defect in fructokinase
AR
benign, asymptomatic
fructose appears in blood and urine

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30
Q

What causes fructose inotlderance? inheritance? Sx?

A

deficiency of aldolase B
AR
leads to decrease in available phosphate–>inhibition of glycogenolysis and gluconeogenesis
hypoglycemia, jaundice, cirrhosis, vomiting

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31
Q

How is fructose intolerance treated?

A

decrease intake of fructose and sucrose (glucose + fructose)

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32
Q

What is seen with galactokinase deficiency? inheritance?

A

galactitol accumulates if galactose is present in diet
galactose appears in blood and urine, infantile cataracts, may initially present as failure to track objects or develop a social smile
mild
AR

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33
Q

What is seen in classic galactosemia? inheritance?

A

absence of galactose-1-phosphate uridyltransferase
accumulation of toxic substances (including galactitol in the lens)
PO4 deficiency
failure to thrive, jaundice, hepatomegaly, infantile cataracts, MR
AR

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34
Q

How is classic galactosemia treated?

A

excluse galactose and lactose (galactose+glucose) from diet

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35
Q

What converts glucose to its alcohol component? What is the alcohol called? Why do cells do this?

A

aldose reductase

sorbitol
done as alternative method of trapping glucose in cells

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36
Q

What can excess sorbitol cause?

A

osmotic damage (cataracts, retinopathy, peripheral neuropathy)

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37
Q

What enzyme converts sorbitol to fructose?

A

sorbitol dehydrogenase

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38
Q

What cell types are missing sorbitol dehydrogenase?

A

schwann cells, retina, kidneys

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39
Q

What organs have both aldose reductase and sorbitol dehydrogenase?

A

liver, lens, ovaries, seminal vesicles

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40
Q

Where is lactase located?

A

brush border enzyme

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41
Q

What are the essential amino acids?

A

glucogenic: met, val, his
glucogenic/ketogenic: ile, phe, thr, trp
ketogenic: leu, lys

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42
Q

What is seen with galactokinase deficiency? inheritance?

A

galactitol accumulates if galactose is present in diet
galactose appears in blood and urine, infantile cataracts, may initially present as failure to track objects or develop a social smile
mild
AR

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43
Q

What is seen in classic galactosemia? inheritance?

A

absence of galactose-1-phosphate uridyltransferase
accumulation of toxic substances (including galactitol in the lens)
PO4 deficiency
failure to thrive, jaundice, hepatomegaly, infantile cataracts, MR
AR

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44
Q

How is classic galactosemia treated?

A

excluse galactose and lactose (galactose+glucose) from diet

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45
Q

What converts glucose to its alcohol component? What is the alcohol called? Why do cells do this?

A

aldose reductase

sorbitol
done as alternative method of trapping glucose in cells

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46
Q

What AAs carry ammonium?

A

alanine

glutamate

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47
Q

What enzyme converts sorbitol to fructose?

A

sorbitol dehydrogenase

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48
Q

What cell types are missing sorbitol dehydrogenase?

A

schwann cells, retina, kidneys

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49
Q

What organs have both aldose reductase and sorbitol dehydrogenase?

A

liver, lens, ovaries, seminal vesicles

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50
Q

Where is lactase located?

A

brush border enzyme

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51
Q

What are the essential amino acids?

A

glucogenic: met, val, his
glucogenic/ketogenic: ile, phe, thr, trp
ketogenic: leu, lys
(arg and his are also required during periods of growth)

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52
Q

what are the acidic amino acids?

A

asp, glu (neg charge at body pH)

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53
Q

what are the basic amino acids?

A

arg, lys, his

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54
Q

Where is the enzyme ornithine transcarbamoylase located?

A

mitochondria

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55
Q

urea cycle order of compounds (ordinarily careless crappers are also frivolous about urination)

A 
ornithine/carbamoly phosphate
citrulline/aspartate
arginosuccinate
arginine/fumarate
urea
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56
Q

What AAs carry ammonium?

A

alanine

glutamate

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57
Q

What are sx of ammonia intoxication?

A 
tremor (asterixis)
slurred speech
somnolence
vomiting
cerebral edema
blurring of vision
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58
Q

What are the 2 categories of causes for hyperammonemia?

A

acquired (liver disease)

hereditary (urea cycle enzyme deficiencies)

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59
Q

What does excess NH4 inhibit?

A

TCA because it depletes a ketoglutarate

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60
Q

How do you treat hyperammonemia?

A

limit protein in diet
benzoate or phenylbutryate to decrease ammonia levels (bind AA and lead to excretion)
lactulose

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61
Q

What are findings of OTC deficiency?

A

increased orotic acid in blood and urine, decreased BUN, sx of hyperammonemia
usually presents first few days of life

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62
Q

How is OTC def inherited? Why does this cause problems?

A

X linked recessive

interferes with the body’s ability to eliminate ammonia

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63
Q

What can happen to babies whose mothers have PKU?

A

(when mom isn’t getting proper dietary therapy during pregnancy)
microcephaly, MR, growth retardation, congenital heart defects

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64
Q

What is made from tryptophan?

A

Niacin/NAD/NADP

serotonin, melatonin

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65
Q

What is made from histidine?

A

histamine

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66
Q

What is made from glycine?

A

porphyrin/heme

67
Q

What causes albinism?

A 
deficiecny of 
tyrosinase (cant make melanin, AR)
defective tyrosine transporters (decreased amt of tyrosine and thus melanin)
lack of migration of neural crest cells
**ocular albinism is X linked recessive
68
Q

What is made from glutamate?

A

GABA

glutathione

69
Q

What are the product of MAO/COMT?

A

HVA (from dopamine)
VMA (from NE)
Metanephrine (from Epi)

70
Q

What causes Phenylketonuria?

A

decreased phenylalanine hydroxylase or decreased tetrahydrobiopterin cofactor

71
Q

What is essential in PKU? What must be avoided? What is in the urine?

A

tyrosine
avoid phenylalanine
phenylketones

72
Q

What are sx of PKU?

A

MR, growth retardation, seizures, fair skin, eczema, musty body odor

73
Q

What can happen to babies whose mothers have PKU?

A

(when mom isn’t getting proper dietary therapy during pregnancy)
microcephaly, MR, growth retardation, congenital heart defects

74
Q

What causes alkaptonuria (ochronosis)?

A

deficiency of homogentisic acid oxidase (can’t degrade tyrosine to fumarate)

75
Q

What are sx of alkaptonuria?

A

benign
dark connective tissue, brown pigmented sclera, urine turns black on prolonged exposure to air
may have debilitating arthralgias (homogentisic acid toxic to cartilage)

76
Q

What drug blocks DOPA decarboxylase in the periphery?

A

carbidopa

77
Q

What causes albinism?

A 
deficiecny of 
tyrosinase (cant make melanin, AR)
defective tyrosine transporters (decreased amt of tyrosine and thus melanin)
lack of migration of neural crest cells
**ocular albinism is X linked recessive
78
Q

What are sx of hartnup disease?

A

pellagra (bc can’t make B3)-dermatitis, diarrhea, dementia

79
Q

What are findings in homocystinuria?

A

increased homocysteine in urine

MR, osteoporosis, tall stature, kyphosis, lens subluxation, atherosclerosis (stroke and MI)

80
Q

What causes cystinuria?

A

AR defect of renal tubular amino acid transporter for cysteine, ornithine, lysine and arginine in the PCT of kidney

81
Q

What are sx of cystinuria?

A

precipitation of hexagonal crystals and renal staghorn calculi

82
Q

Tx for cystinuria?

A

hydration and urinary alkalinization (acetazolamide)

83
Q

What is cystine?

A

2 cysteines connected by a disulfide bond

84
Q

What are the branched amino acids?

A

isoleucine, leucine, valine

85
Q

What causes maple syrup urine disease?

A

can’t degrade branched amino acids due to decreased a-ketoacid dehydrogenase
AR

86
Q

What are sx of maple syrup urine disease?

A

severe CNS defects, MR, death
urine smells like maple syrup
increased a-ketoacids in the blood, esp leucine

87
Q

What is hartnup disease?

A

AR disorder with defective neutral amino acid transporter on renal and intestinal epithelia cells, leads to tryptophan excretion in urine and decreased absorption in the gut
unable to make B3

88
Q

Sx of type III/cori’s disease?

A

milder for of type I w/ normal blood lactate levels (so hypoglycemia and hepatomegaly but not as bad as von gierke’s)
gluconeogenesis intact

89
Q

What do both glucagon and epinephrine upregulate in cells? What does this cause?

A

Adenylyl cyclase/cAMP

leads to activation of PKA and glycogen phophyrlase kinase (glycogenolysis)

90
Q

What happens when insulin tyrosine kinase dimeraizes?

A

activates protein phosphatase (inactivates glycogen phosphorylase & glycogen phosphorylase kinase)

91
Q

What activates glycogen phospholyase kinase in muscles?

A

Ca2+ and calmodulin

coordinates glycogenolysis with muscle activity

92
Q

What types of linkages are found in glycogen?

A

a1,6

a1,4

93
Q

How are all the glycogen storage disease inherited?

A

AR

94
Q

Sx of type I/Von Gierke’s disease?

A

severe fasting hypoglycemia
increased glycogen in liver
increased blood lactate
hepatomegaly

95
Q

Enzyme deficient in von gierke’s?

A

Glucose 6 phosphatase

96
Q

Sx of type II/Pompes?

A

cardiomegaly and systemic findings leading to early death

heart, liver and muscle damage

97
Q

Enzyme deficient in pompes?

A

lysosomal a-1,4 glucosidase (acid maltase)

98
Q

Sx of type III/cori’s disease?

A

milder for of type I w/ normal blood lactate levels (so hypoglycemia and hepatomegaly but not as bad as von gierke’s)

99
Q

Enzyme deficient in cori’s?

A

debranching enzyme (a-1,6 glucosidase)

100
Q

Type V/McArdle’s sx?

A

increase glycogen in muscle but can’t break it down

leads to painful muscle crames and myoglobinuria (muscle cells swell and lyse) with strenuous exercise

101
Q

What enzyme deficient in McArdle’s?

A

skeletal muscle glycogen phosphorylase

102
Q

What enzyme is deficient in Fabry’s disease? What accumulates? Inheritance?

A

a-galactosidase A
ceramide trihexoside
XR

103
Q

What are sx of Fabry’s disease?

A

peripheral neuropathy of hands/feet
angiokeratomas (esp on lower abdomen, buttocks and groin)
cardiovascular/renal disease

104
Q

Sx of hurler’s s/o?

A 
developmental delay
gargoylism
airway obstruction
corneal clouding
hepatosplenomegaly
105
Q

What are sx of Gaucher’s disease?

A

hepatosplenomegaly, aseptic necrosis of femur, bone crises, Gaucher’s cells (MOs that look like crumpled tissue paper)

106
Q

What enzyme is deficient in Niemann-Pick disease? What accumulates? Inheritance?

A

Sphingomyelinase
Sphingomyelin
AR

107
Q

What are sx of Niemann-Pick disease?

A

progressive neurodegeneration, hepatosplenomegaly, cherry red spot, foam cells
worsening of intellectual disability

108
Q

What enzyme is deficient in Tay Sachs? What accumulates? Inheritance?

A

Hexosaminidase A
GM2 ganglioside
AR

109
Q

What are sx of Tay Sachs disease?

A

progressive neurodegeneration, developmental delay, cherry red spot, lysosomes w/onion skin
NO hepatosplenomegaly

110
Q

What enzyme is deficient in Krabbe’s disease? What accumulates? Inheritance?

A

Galactocerebrosidase
Galactocerebrosde (psychosine)
AR

111
Q

Waht are sx of Krabbe’s disease?

A

peripheral neuropathy, developmental delay, optic atrophy, globoid cells

112
Q

What enzyme is deficient in metachromic leukodystrophy? What accumulates? Inheritance?

A

arylsulfatase A
cerebroside sulfate
AR

113
Q

What enzyme is deficient in Hurler’s syndrome? What accumulates? Inheritance?

A

a-L-iduronidase
heparan sulfate, dermatan sulfate
AR

114
Q

What is providing fuel after fed state?

A

glycolysis and aerobic respiration

insulin stimulates storage of lipids, porteins and glycogen

115
Q

What enzyme is deficient in Hunter’s syndrome? What accumulates? Inheritance?

A

iduronate sulfatase
heparan sulfate, dermatan sulfate
XR

116
Q

What are sx of Hunter’s s/o?

A

mild hurler’s + aggressive behavior

NO corneal clouding

117
Q

Which of the lysosomal storage disease are Ashkenazi jews and increased risk for?

A

Tay SAchs
Niemann Pick
Gauchers

118
Q

What happens in carnitine deficiency?

A

inability to transport LCFAs into the mitochondria
leads to toxic accumulation
weakness, hypotonia, hypoketoia hypoglycemia

119
Q

What happens with acyl CoA dehydrogenase deficiency?

A

increased dicarboxylic acids

decreased glucose and ketones

120
Q

What are fatty acids and amino acids metabolized to in the liver (during starvation)?

A

acetoacetate and B hydroxybutyrate (ketones)

121
Q

What is depleted during DKA?

A

oxaloacetate–>no substrate for gluconeogenesis

have to make ketone bodies instead

122
Q

How many calories are in 1g of protein or carbohydrate?

A

4 kcal

123
Q

How many calories are in 1g of fat?

A

9 kcal

124
Q

What is providing fuel after fed state?

A

glycolysis and aerobic respiration

125
Q

What provides fuel in fasting state (between meals)

A 
hepatic glycogenolysis (major), hepatic gluconeogenesis/adipose release of FFA (minor)
glucagon and adrenaline sitmualte use of fuel reserves
126
Q

What does hormone sensitive lipase do?

A

degrade TG stores in adipocytes

127
Q

What cell type cannot use ketones for fuel?

A

RBCs

128
Q

What does cholesterol ester transfer protein (CETP) do?

A

mediate transfer of cholesterol esters to other lipoprotein particles

129
Q

After 3 days of starvation what is maintaining blood glucose?

A

adipose stores/ketone bodies

after adipse depleted-protein degradation (can lead to organ failure and death)

130
Q

What determines length of starvation survival time?

A

amount of adipose stores (fatties FTW)

131
Q

What reaction does HMG CoA reductase stimulate?

A

HMG CoA to mevalonate

132
Q

What esterified plasma cholesterol?

A

lecithin-cholesterol acyltransferase

133
Q

What does ApoB100 do? What is it a part of?

A

binds LDL-R

VLDL, IDL, LDL

134
Q

What does lipoprotein lipase do?

A

degrade TG circulating in chylomicrons and VLDLs

135
Q

What does hepatic TG lipase do?

A

degrade TG remaining in IDL

136
Q

What does hormone sensitive lipase do?

A

degrade TG stores in adipocytes

137
Q

What does lecithin-cholesterol acyltransferace (LCAT) do?

A

catalyze esterification of cholesterol

138
Q

What does cholesterol ester transfer protein (CETP) do?

A

mediate transfer of cholesterol esters to other lipoprotein particles

139
Q

What does ApoE do? What is it a part of?

A

mediates remnant uptake

chylomicron/chylomicron remnant, VLDL, IDL, HDL

140
Q

What does LDL do?

A

deliver hepatic cholesterol to peripheral tissues
formed by modifiying IDL in peripheral tissue
taken up by target cells via receptor meidated endocytosis

141
Q

What does ApoC-II do? What is it a part of?

A

lipoprotein lipase cofactor

chylomicron, VLDL, HDL

142
Q

What does ApoB48 do? What is it a part of?

A

mediates chylomicron secretion

chylomicron/chylomicron remnant

143
Q

What does ApoB100 do? What is it a part of?

A

binds LDL-R

VLDL, IDL, LDL

144
Q

What carries the majority of cholesterol?

A

LDL and HDL

145
Q

What transports cholesterol from liver to tissues?

A

LDL

146
Q

What transports cholesterol from periphery to liver?

A

HDL

147
Q

What do chylomicrons do?

A

deliver dietary TGs to peripheral tissue, delivers cholesterol to liver (remnants)
secreted by intestinal epithelial cells

148
Q

What does VLDL do?

A

delivers hepatic TGs to peripheral tissue

secreted by liver

149
Q

What does IDL do?

A

formed by degradation of VLDL

delivers TGs and cholesterol to liver

150
Q

What does LDL do?

A

deliver hepatic cholesterol to peripheral tissues
formed by modifiying IDL in peripheral tissue
taken up by target cells via receptor meidated endocytosis

151
Q

What does HDL do?

A

mediates reverse choelsterol transport from periphery to liver
repository for apoC and apoE (needed for chylomicron and VLDL metabolism)
secreted from liver and intestine

152
Q

What is increased in blood with 1-hyper-chylomicronemia

A

chylomicrons, TG, cholesterol

153
Q

What causes 1-hyper chylomicronemia/

A

AR lipoprotein lipase deficiency or altered apolipoprotein C-II

154
Q

Sx of 1-hyper chylomicronemia?

A

pancreatitis, hepatosplenomegaly, eroptive/pruritic xanthomas
NO increased risk for atherosclerosis

155
Q

What is increased in blood for IIa familial hyper cholesterolemia?

A

LDL, cholesterol

156
Q

What causes IIa familial hypercholesterolemia?

A

AD deficiency or decreased LDL receptors

157
Q

Sx of IIa familial hypercholesterolemia/

A

accelerated atherosclerosis, tendon xanthomas, corneal arcus

158
Q

What is elevated in blood for IV-hypertriglyceridemia?

A

VLDL, TG

159
Q

What causes IV-hypertriglyceridemia?

A

AD hepatic overproduction of VLDL

160
Q

Sx of IV-hypertriglyceridemia?

A

pancreatitis

161
Q

What causes abetalipoproteinemia?

A

AR mutation in microsomal triglyceride transfer protein (MTP) gene
decreased B48 and B100
decreased chylomicron and VLDL synthesis and secretion
l

162
Q

What does biopsy show for abetalipoproteinemia?

A

lipid accumulation in enterocytes due to inability to export absorbed lipid as chylomicrons

163
Q

Sx of abetalipoproteinemia?

A

failure to thrive, steatorrhea, acanthocytosis, ataxia, night blindness

164
Q

What is the treatment for abetalipoproteinemia?

A

vitamin E

FIRST AID (8 decks)

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