Week 1 Flashcards

1
Q

Vitamin A disorders

A
  • leads to visual issues
  • due to malnutrition
  • excess leads to liver toxicity
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2
Q

Vitamin D disorders

A
  • deficiency leads to brittle bones

- hypocalcemic tetany

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3
Q

vitamin C disorders

A
  • deficiency causes scurvy

- needed for collagen synthesis

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4
Q

Normal fasting blood glucose

A

70-100mg/dL, 4-8mM

>126mg/dL = diabetes

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5
Q

Starch

A

amylose- unbranched

amylopectin- branched

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6
Q

sucrose

A

glucose+fructose

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7
Q

glycemic index

A

foods effect on blood glucose levels

propensity to increase blood glucose

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8
Q

Essential Fatty Acids

A
linoleic acid (C18:2)
Linolenic acid (C18:3)
Arachidonic acid (C20:4)
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9
Q

Isoprenoids

A

5C building blocks for steroids

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10
Q

Lipid soluble Vitamins

A

Vitamin A
Vitamin D
Vitamin E
Vitamin K

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11
Q

Cystine

A

dimer of two cysteines
- from oxidation of -SH group of cysteine
- oxidizing environment needed
- glutathione prevents oxidizing environment in cytosol
forms stones in kidneys, ureter and bladder

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12
Q

homocysteine

A

from methionine

homocystine is dimer of homocysteine

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13
Q

Protein tertiary structure interactions

A

hydrophobic interactions
disulfide bonds
metal ions
hydrogen bonding

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14
Q

Vitamin B2

A

riboflavin

from milk and eggs

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15
Q

Vitamin B3

A
niacin
from:
- meat 
- fruit
- veg
- tryptophan
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16
Q

Vitamin C

A

ascorbic acid

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17
Q

vitamin B1

A

thiamine

coenzyme for PDH

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18
Q

Vitamin B6

A

pyridoxine

needed by pyridoxal phosphate

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19
Q

Beriberi

A

thiamine (B1) deficiency

edema, anorexia, muscle weakness

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20
Q

active form of Vitamin D

A

calcitriol

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21
Q

Thiamine pyrophosphate (TPP)

A

Coenzyme for PDH and a-ketoglutarate dehydrogenase

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22
Q

pyridoxal phosphate

A

Coenzyme for:

  • Glycogen phosphorylase
  • ALA synthase
  • Aminotransferases
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23
Q

Lipoic acid

A

Coenzyme for PDH complex

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24
Q

Ferric reductase

A

Reduces Fe3+ to Fe2+

reduction allows entry into cell

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25
Q

Ferroportin

A

allows transport of Fe2+ into blood from cell

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26
Q

Tranferrin

A

Transports two Fe3+ to liver, spleen and marrow

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27
Q

Enzyme classes

A
Oxidoreductase
Transferase
isomerase
Lyase (Synthases)
ligases (synthetases)
Hydrolase
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28
Q

Apoenzyme

A

enzyme without cofactor

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29
Q

haloenzyme

A

cofactor bound and enzyme active

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30
Q

ariboflavinosis

A

deficiency in riboflavin (B2)
decreased FAD synthesis
reduced glutathione reductase activity (FAD needed)

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31
Q

competitive inhibition

A

Km increased

Vmax unchanged

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32
Q

uncompetitive inhibition

A

Binds only enzyme substrate complex

Km and Vmax lowered

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33
Q

noncompetitive inhibition

A

binds both free and substrate bound enzyme complex
Vmax lowered
Km unchanged

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34
Q

GLUT1

A

ubiquitous

Km 1mM

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35
Q

GLUT 2

A

Liver and pancreas

Km 10mM

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36
Q

GLUT3

A

neurons

kM 1mM

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37
Q

GLUT4

A

skeletal muscle, adipose, heart
regulated by insulin
Km 5mM

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38
Q

Gluconeogenesis Irreversible enzymes

A

Pyruvate carboxylase
PEPCarboxy Kinase (PEPCK)
Fructose 1,6 Bisphosphatase
Glucose 6 phosphatase

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39
Q

Glycolysis irreversible enzymes

A

Hexokinase/glucokinase
phosphofructokinase-1
pyruvate kinase

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40
Q

Glucose sensor

A

GLUT 2 in pancreatic ß-cells
causes release of insulin
transport is facilitated diffusion duh

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41
Q

Mechanism of glucose sensing

A

Increase glucose metabolism = increase ATP
High ATP closes ATP-dependent K+ channels
depolarizes PM
VG Ca2+ channels open = increase intracellular Ca
insulin vesicles fuse with PM

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42
Q

Falconi-Bickel syndrome

A

mutated GLUT2
stunted growth and hepatomegaly (
hyperglycemia, hypoglycemia between meals
glucose from gluconeogenesis not released from liver
defective insulin release

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43
Q

cystic fibrosis

A
defective CFTR protein
Cl- channel defective 
NaCl accumulates in cell followed by H20
mucous thick  
recurrent infections
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44
Q

acetylation

A

acetylation of histone relaxes DNA for transcription

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45
Q

Acylation

A

attachment of fatty acid to protein

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46
Q

Glycosylation

A

Attachment of sugars to protein

glycosylation of RBC determines blood type

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47
Q

Hemoglobin A1C

A

high levels of glycosylated hemoglobin observed in diabetic patients

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48
Q

zymogen

A

inactive precursor of enzyme

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49
Q

Glyceropospholipids

A

glycerol backbone

phosphatidylcholine, phosphatidyl serine, phosphatidylinositol

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50
Q

Sphingolipids

A

sphingosine backbone

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51
Q

glycolipids

A

have sphingosine backbone and carbohydrate residue

found in outer leaflet

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52
Q

Outer PM sheet

A

phosphatidylcholine
sphingomyelin
glycolipids

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53
Q

inner PM sheet

A

phosphatidylinositol
phosphatidylserine
phosphatidylethanolamine

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54
Q

marker for apoptosis

A

phosphatidylserine moved to outer PM sheet

recognized by phagocytes

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55
Q

Niemann-Pick disease

A

deficiency of acid sphingomyelinase (lysosomal enzyme)
sphingomyelin accumulates in liver, spleen and CNS
Hepatosplenomegally

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56
Q

Erythroblastocic fetalis

A

mom is Rh-

fetus is Rh+

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57
Q

spur cell anemia

A

elevated cholesterol in RBC membrane
decreases fluidity and flexibility of membrane
leads to hemolysis as RBC pass through spleen capillaries
- associated with ß-lipoproteinemia (defect in cholesterol metabolism) and advanced alcoholic cirrhosis

58
Q

cystinuria

A

defect in transporter for cystine, arginine, lysine and ornithine
cystine crystals form in kidney

59
Q

hartnup disease

A
defect in transport for non-polar or neutral AAs
manifest in infancy
-nystagmus
-ataxia
-tremor
60
Q

Sodium-Glucose transporter 1 (SGLT1)

A

moves glucose against gradient

Na+/K+ ATPase resets Na+ gradient

61
Q

Na+Ca2+ Exchanger (NCX)

A

antiporter
imports 3Na+ down gradient
exports 1 Ca2+ against gradient

62
Q

Cardiotonic Drugs

A

Cardiac glycosides
-ouabain
-digoxin
contraction inducing drugs

63
Q

Digoxin

A

inhibits NaK-ATPase

increase Ca2+ intracellularly due to slowing of NCX

64
Q

clathrin coated vesicles

A

from golgi to lysosomes or

products from exterior of cell to lysosomes (eg. cholesterol)

65
Q

COPI coated vesicles

A

movement of vesicles within golgi

66
Q

COPII coated vesicles

A

from ER to golgi

67
Q

familial hypercholesterolemia

A

elevated LDL
defect is mutation in LDL receptor
leads to atherosclerotic plaques

68
Q

Zellweger spectrum disorders

A

defect in assembly of peroxisomes

69
Q

aminotransferase in clinical setting

A

typically found in mitochondria

increase in aminotransferase in blood indicates tissue damage

70
Q

Elevated aspartate amino transferase in blood

A

indicates myocardial infarction

71
Q

elevated alanine aminotransferase in blood

A

indicates viral hepatitis, liver cell necrosis

72
Q

Maple syrup urine disease (MSUD)

A

deficient branch-chain a-ketoacid dehydrogenase

neurotoxic condition

73
Q

hyperhomocysteinemia and homocystinuria

A

defect in methionine metabolism
risk factor for atherosclerosis and heart disease
due to B6, B2 and folic acid deficiencies

74
Q

PKU

A

Defect in phenylalanine hydroxylase activity

75
Q

ketogenic only AAs

A

leu and lys

precursors for amino acids

76
Q

hyperammonemia

A

neurotoxic
decreases pH
depletes a-KG and Glu levels

77
Q

Lesch-Nyhan syndrome

A

defect in HGPRT in purine salvage pathway
excess purines being converted to Uric acid
Excess PRPP stimulates production of more purines

78
Q

Acyclovir

A

Substrate for viral thymidine kinase

integrated into and stops synthesis of viral DNA

79
Q

Hers disease (GSD VI)

A

mutation in liver Glycogen phosphorylase

80
Q

McArdle Syndrome (GSD V)

A

mutation in muscle Glycogen phosphorylase

81
Q

GSD 0

A

deficiency in glycogen synthase

glucose can’t be stored as glycogen

82
Q

Anderson Disease (GSD IV)

A

deficiency in 4:6 transferase
hepatosplenomegaly
cirrhosis

83
Q

Pyruvate dehydrogenase deficiency

A

Neonate lactic acidosis
Defect in E1 component
Thiamine (B1) is coenzyme for E1
- supplementation with B1 can help

84
Q

arsenite and lipoid acid

A

lipoic acid is coenzyme for E2

arsenite inhibits E2 component by linking lipoic acid -SH groups

85
Q

Wernicke-Korsakoff syndrome

A

thiamine deficiency due to alcoholism
alcohol inhibits thiamine absorption
leads to decrease in PDH activity

86
Q

Rat Poison

A

inhibits aconitase and PFK-1 in glycolysis

87
Q

Ferrodoxins

A

small proteins that serve as electron carriers in ETC

88
Q

Rotenone

A

inhibitor of complex I (NADH dehydrogenase)

89
Q

Cyanine Poisoning

A

non-competitive Inhibitor of complex IV

90
Q

Carbon Monoxide

A

competitive inhibitor of complex IV

can be overcome with O2 administration

91
Q

aspirin overdose

A

can uncouple Ox Phos and increase temperature

92
Q

2-Oxoglutaric aciduria

A

global developmental delay and neurological deficits in infants

  • metabolic acidosis
  • microcephaly
93
Q

Fumarate deficiency

A

severe neurological impairment

increased fumarate, succinate, a-KG and citrate in urine

94
Q

succinyl-CoA synthetase deficiency

A

hypotonia, dystonia, muscular atrophy
neural hearing impairment
enzyme in TCA between succinyl CoA and succinate

95
Q

glutamine synthase

A

transfers NH4 to Glu to produce Gln

96
Q

glutaminase

A

removes NH4 from Gln to produce Glu

97
Q

Met, Thr, Ile, Val metabolism product

A

end product is succinyl coA

98
Q

cystathionine ß-sythase

A

deficient in homocystinuria

coenzyme is PLP (B6)

99
Q

deficiency in branched-chain a-ketoacid dehydrogenase

A

MSUD

100
Q

deficient phenylalanine hydroxylase activity

A

PKU

101
Q

Phe and Tyr metabolism product

A

fumarate

102
Q

Asn and Asp metabolism product

A

Oxaloacetate

103
Q

Lys and Thr metabolism product

A

acetoacetate (ketogenic)

104
Q

Glutamate dehydrogenase

A

a-KG -> Glu

105
Q

Glutamine synthetase

A

Glu-> Gln and then transported to liver

106
Q

Removal of NH4 from muscle

A

Pyruvate-> Alanine (uses ALT enzyme)

alanine transported to liver for deamination by ALT

107
Q

OTCase

A

catalyzes formation of citruilline

carbamoyl phosphate + Ornithine = citruilline

108
Q

OTCase deficiency

A

hyperammonemia w/ orotic aciduria
buildup of ornithine downstream
Ornithine inhibits arginase = no production of urea

109
Q

Cys, Ala, Ser, Trp, Gly, Thr metabolism product

A

pyruvate

110
Q

two control points for pyrimidine sytheisis

A

Carbamoyl phosphate synthetase inhibited by UMP and purines
- stimulated by PRPP
ATCase inhibited by CTP

111
Q

IMP dehydrogenase

A

converts IMP to XMP
target of immunosuppressant drugs
- mycophenolic acid

112
Q

Adenosine deaminase (ADA)

A

degrades Adenosine to Inosine in purine catabolism

113
Q

Excess ADA

A

hemolytic anemia

increased degradation of Adenosine depletes nucleotide pool

114
Q

ADA deficiency

A

SCIDs
high levels of adenosine blocks synthesis of other dNDPs needed
compromised immune system

115
Q

Xanthine oxidase

A

catalyzes hypoxanthine-> xanthine-> uric acid

target of allopurinol

116
Q

Colchicine

A

reduces migration of granulocytes to urate crystals in joints

117
Q

Probenecid

A

increases excretion of uric acid

118
Q

Uric acid levels as diagnostic marker

A

normal = 4-8.6 mg/dL

119
Q

Uridine and cytidine catabolism product

A

malonyl CoA (ketogenic)

120
Q

Thymidine catabolism product

A

methylmalonyl CoA
Succinyl CoA
(Glucogenic)

121
Q

5-fluorouracil

A

inhibitor of thymidylate synthase

122
Q

renal lithiasis

A

defects in APRT salvage enzyme for adenine

123
Q

Pyrimidine salvage enzymes

A

Uridine phosphorylase

Thymidine phosphorylase

124
Q

Regulators of Pyruvate kinase

A

(+) insulin, fructose 1,6 BP
(-) Alanine, ATP, Glucagon, high ATP/AMP
phosphorylated PK less active

125
Q

Regulators of phosphofructokinase-1

A

(+) AMP, Fructose 2,6 BP

(-) ATP, Citrate, High ATP/AMP

126
Q

lactate dehydrogenase

A

converts pyruvate to lactate

reversible

127
Q

PDH complex

A

converts pyruvate to acetyl CoA for TCA cycle

128
Q

Pyruvate carboxylase

A

converts pyruvate to oxaloacetate for glucogneogenesis

only found in mitochondria

129
Q

Gluconeogenesis irreversible enzymes

A

Pyruvate kinase
PEPCK
Fructose 1,6 bisphosphatase
Glucose-6 phosphatase (only in liver)

130
Q

Cori cycle

A

lactate produced in skeletal muscle and RBCs converted to pyruvate in liver

131
Q

phosphoglucomutase

A

converts glucose 6P to glucose 1P

132
Q

uridine diphosphate (UDP)-glucose pyrophosphorylase

A

transfers Glucose 1P to UTP

133
Q

Glycogen Phosphorylase

A

Uses pyridoxal phosphate (B6) coenzyme

134
Q

Glycogenesis favored when:

A

high glucose and insulin and ATP

Dephospho form is active

135
Q

GLycogenolysis favored when

A

glucose low, glucagon high (glucagon receptors only on hepatocytes)
Ca2+ and AMP high
Phosphorylated form active
dephospho form inactive

136
Q

Insulin signaling Key proteins

A

GLUT4
PKB
PP1
GSK3

137
Q

Glucagon signaling key proteins

A
GPCR and cAMP
PKA
PP1
Phosphorylase Kinase
pathway defective in type 2 diabetes
138
Q

PDH complex phosphatase deficiency

A

PDC always in phosphorylated form (inactive)

leads to lactic acidosis

139
Q

Orotic aciduria w/ hyperammonemia

A

Defect in OTCase

Elevated levels of carbamoyl phosphate transferred to cytosol for use in pyrimidine biosynthesis

140
Q

Ornithine in Urea cycel

A

High levels of ornithine in cytosol inhibits Arginase (inhibits splitting of arginine to release urea)
Reason ornithine must be shuttled back to mitochondria

141
Q

hereditary orotic aciduria

A

Defect in UMP synthase (converts OMP to UMP)
Pyrimidines are lacking
Treatment is Uridine supplementation