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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
Ferroportin
allows transport of Fe2+ into blood from cell
26
Tranferrin
Transports two Fe3+ to liver, spleen and marrow
27
Enzyme classes
``` Oxidoreductase Transferase isomerase Lyase (Synthases) ligases (synthetases) Hydrolase ```
28
Apoenzyme
enzyme without cofactor
29
haloenzyme
cofactor bound and enzyme active
30
ariboflavinosis
deficiency in riboflavin (B2) decreased FAD synthesis reduced glutathione reductase activity (FAD needed)
31
competitive inhibition
Km increased | Vmax unchanged
32
uncompetitive inhibition
Binds only enzyme substrate complex | Km and Vmax lowered
33
noncompetitive inhibition
binds both free and substrate bound enzyme complex Vmax lowered Km unchanged
34
GLUT1
ubiquitous | Km 1mM
35
GLUT 2
Liver and pancreas | Km 10mM
36
GLUT3
neurons | kM 1mM
37
GLUT4
skeletal muscle, adipose, heart regulated by insulin Km 5mM
38
Gluconeogenesis Irreversible enzymes
Pyruvate carboxylase PEPCarboxy Kinase (PEPCK) Fructose 1,6 Bisphosphatase Glucose 6 phosphatase
39
Glycolysis irreversible enzymes
Hexokinase/glucokinase phosphofructokinase-1 pyruvate kinase
40
Glucose sensor
GLUT 2 in pancreatic ß-cells causes release of insulin transport is facilitated diffusion duh
41
Mechanism of glucose sensing
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
42
Falconi-Bickel syndrome
mutated GLUT2 stunted growth and hepatomegaly ( hyperglycemia, hypoglycemia between meals glucose from gluconeogenesis not released from liver defective insulin release
43
cystic fibrosis
``` defective CFTR protein Cl- channel defective NaCl accumulates in cell followed by H20 mucous thick recurrent infections ```
44
acetylation
acetylation of histone relaxes DNA for transcription
45
Acylation
attachment of fatty acid to protein
46
Glycosylation
Attachment of sugars to protein | glycosylation of RBC determines blood type
47
Hemoglobin A1C
high levels of glycosylated hemoglobin observed in diabetic patients
48
zymogen
inactive precursor of enzyme
49
Glyceropospholipids
glycerol backbone | phosphatidylcholine, phosphatidyl serine, phosphatidylinositol
50
Sphingolipids
sphingosine backbone
51
glycolipids
have sphingosine backbone and carbohydrate residue | found in outer leaflet
52
Outer PM sheet
phosphatidylcholine sphingomyelin glycolipids
53
inner PM sheet
phosphatidylinositol phosphatidylserine phosphatidylethanolamine
54
marker for apoptosis
phosphatidylserine moved to outer PM sheet | recognized by phagocytes
55
Niemann-Pick disease
deficiency of acid sphingomyelinase (lysosomal enzyme) sphingomyelin accumulates in liver, spleen and CNS Hepatosplenomegally
56
Erythroblastocic fetalis
mom is Rh- | fetus is Rh+
57
spur cell anemia
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
cystinuria
defect in transporter for cystine, arginine, lysine and ornithine cystine crystals form in kidney
59
hartnup disease
``` defect in transport for non-polar or neutral AAs manifest in infancy -nystagmus -ataxia -tremor ```
60
Sodium-Glucose transporter 1 (SGLT1)
moves glucose against gradient | Na+/K+ ATPase resets Na+ gradient
61
Na+Ca2+ Exchanger (NCX)
antiporter imports 3Na+ down gradient exports 1 Ca2+ against gradient
62
Cardiotonic Drugs
Cardiac glycosides -ouabain -digoxin contraction inducing drugs
63
Digoxin
inhibits NaK-ATPase | increase Ca2+ intracellularly due to slowing of NCX
64
clathrin coated vesicles
from golgi to lysosomes or | products from exterior of cell to lysosomes (eg. cholesterol)
65
COPI coated vesicles
movement of vesicles within golgi
66
COPII coated vesicles
from ER to golgi
67
familial hypercholesterolemia
elevated LDL defect is mutation in LDL receptor leads to atherosclerotic plaques
68
Zellweger spectrum disorders
defect in assembly of peroxisomes
69
aminotransferase in clinical setting
typically found in mitochondria | increase in aminotransferase in blood indicates tissue damage
70
Elevated aspartate amino transferase in blood
indicates myocardial infarction
71
elevated alanine aminotransferase in blood
indicates viral hepatitis, liver cell necrosis
72
Maple syrup urine disease (MSUD)
deficient branch-chain a-ketoacid dehydrogenase | neurotoxic condition
73
hyperhomocysteinemia and homocystinuria
defect in methionine metabolism risk factor for atherosclerosis and heart disease due to B6, B2 and folic acid deficiencies
74
PKU
Defect in phenylalanine hydroxylase activity
75
ketogenic only AAs
leu and lys | precursors for amino acids
76
hyperammonemia
neurotoxic decreases pH depletes a-KG and Glu levels
77
Lesch-Nyhan syndrome
defect in HGPRT in purine salvage pathway excess purines being converted to Uric acid Excess PRPP stimulates production of more purines
78
Acyclovir
Substrate for viral thymidine kinase | integrated into and stops synthesis of viral DNA
79
Hers disease (GSD VI)
mutation in liver Glycogen phosphorylase
80
McArdle Syndrome (GSD V)
mutation in muscle Glycogen phosphorylase
81
GSD 0
deficiency in glycogen synthase | glucose can't be stored as glycogen
82
Anderson Disease (GSD IV)
deficiency in 4:6 transferase hepatosplenomegaly cirrhosis
83
Pyruvate dehydrogenase deficiency
Neonate lactic acidosis Defect in E1 component Thiamine (B1) is coenzyme for E1 - supplementation with B1 can help
84
arsenite and lipoid acid
lipoic acid is coenzyme for E2 | arsenite inhibits E2 component by linking lipoic acid -SH groups
85
Wernicke-Korsakoff syndrome
thiamine deficiency due to alcoholism alcohol inhibits thiamine absorption leads to decrease in PDH activity
86
Rat Poison
inhibits aconitase and PFK-1 in glycolysis
87
Ferrodoxins
small proteins that serve as electron carriers in ETC
88
Rotenone
inhibitor of complex I (NADH dehydrogenase)
89
Cyanine Poisoning
non-competitive Inhibitor of complex IV
90
Carbon Monoxide
competitive inhibitor of complex IV | can be overcome with O2 administration
91
aspirin overdose
can uncouple Ox Phos and increase temperature
92
2-Oxoglutaric aciduria
global developmental delay and neurological deficits in infants - metabolic acidosis - microcephaly
93
Fumarate deficiency
severe neurological impairment | increased fumarate, succinate, a-KG and citrate in urine
94
succinyl-CoA synthetase deficiency
hypotonia, dystonia, muscular atrophy neural hearing impairment enzyme in TCA between succinyl CoA and succinate
95
glutamine synthase
transfers NH4 to Glu to produce Gln
96
glutaminase
removes NH4 from Gln to produce Glu
97
Met, Thr, Ile, Val metabolism product
end product is succinyl coA
98
cystathionine ß-sythase
deficient in homocystinuria | coenzyme is PLP (B6)
99
deficiency in branched-chain a-ketoacid dehydrogenase
MSUD
100
deficient phenylalanine hydroxylase activity
PKU
101
Phe and Tyr metabolism product
fumarate
102
Asn and Asp metabolism product
Oxaloacetate
103
Lys and Thr metabolism product
acetoacetate (ketogenic)
104
Glutamate dehydrogenase
a-KG -> Glu
105
Glutamine synthetase
Glu-> Gln and then transported to liver
106
Removal of NH4 from muscle
Pyruvate-> Alanine (uses ALT enzyme) | alanine transported to liver for deamination by ALT
107
OTCase
catalyzes formation of citruilline | carbamoyl phosphate + Ornithine = citruilline
108
OTCase deficiency
hyperammonemia w/ orotic aciduria buildup of ornithine downstream Ornithine inhibits arginase = no production of urea
109
Cys, Ala, Ser, Trp, Gly, Thr metabolism product
pyruvate
110
two control points for pyrimidine sytheisis
Carbamoyl phosphate synthetase inhibited by UMP and purines - stimulated by PRPP ATCase inhibited by CTP
111
IMP dehydrogenase
converts IMP to XMP target of immunosuppressant drugs - mycophenolic acid
112
Adenosine deaminase (ADA)
degrades Adenosine to Inosine in purine catabolism
113
Excess ADA
hemolytic anemia | increased degradation of Adenosine depletes nucleotide pool
114
ADA deficiency
SCIDs high levels of adenosine blocks synthesis of other dNDPs needed compromised immune system
115
Xanthine oxidase
catalyzes hypoxanthine-> xanthine-> uric acid | target of allopurinol
116
Colchicine
reduces migration of granulocytes to urate crystals in joints
117
Probenecid
increases excretion of uric acid
118
Uric acid levels as diagnostic marker
normal = 4-8.6 mg/dL
119
Uridine and cytidine catabolism product
malonyl CoA (ketogenic)
120
Thymidine catabolism product
methylmalonyl CoA Succinyl CoA (Glucogenic)
121
5-fluorouracil
inhibitor of thymidylate synthase
122
renal lithiasis
defects in APRT salvage enzyme for adenine
123
Pyrimidine salvage enzymes
Uridine phosphorylase | Thymidine phosphorylase
124
Regulators of Pyruvate kinase
(+) insulin, fructose 1,6 BP (-) Alanine, ATP, Glucagon, high ATP/AMP phosphorylated PK less active
125
Regulators of phosphofructokinase-1
(+) AMP, Fructose 2,6 BP | (-) ATP, Citrate, High ATP/AMP
126
lactate dehydrogenase
converts pyruvate to lactate | reversible
127
PDH complex
converts pyruvate to acetyl CoA for TCA cycle
128
Pyruvate carboxylase
converts pyruvate to oxaloacetate for glucogneogenesis | only found in mitochondria
129
Gluconeogenesis irreversible enzymes
Pyruvate kinase PEPCK Fructose 1,6 bisphosphatase Glucose-6 phosphatase (only in liver)
130
Cori cycle
lactate produced in skeletal muscle and RBCs converted to pyruvate in liver
131
phosphoglucomutase
converts glucose 6P to glucose 1P
132
uridine diphosphate (UDP)-glucose pyrophosphorylase
transfers Glucose 1P to UTP
133
Glycogen Phosphorylase
Uses pyridoxal phosphate (B6) coenzyme
134
Glycogenesis favored when:
high glucose and insulin and ATP | Dephospho form is active
135
GLycogenolysis favored when
glucose low, glucagon high (glucagon receptors only on hepatocytes) Ca2+ and AMP high Phosphorylated form active dephospho form inactive
136
Insulin signaling Key proteins
GLUT4 PKB PP1 GSK3
137
Glucagon signaling key proteins
``` GPCR and cAMP PKA PP1 Phosphorylase Kinase pathway defective in type 2 diabetes ```
138
PDH complex phosphatase deficiency
PDC always in phosphorylated form (inactive) | leads to lactic acidosis
139
Orotic aciduria w/ hyperammonemia
Defect in OTCase | Elevated levels of carbamoyl phosphate transferred to cytosol for use in pyrimidine biosynthesis
140
Ornithine in Urea cycel
High levels of ornithine in cytosol inhibits Arginase (inhibits splitting of arginine to release urea) Reason ornithine must be shuttled back to mitochondria
141
hereditary orotic aciduria
Defect in UMP synthase (converts OMP to UMP) Pyrimidines are lacking Treatment is Uridine supplementation

MCM (2 decks)

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