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”
2
Q
Hyper-chylomicronemia (type 1)
A
AR
lipoprotein lipase or CII defect
no increased risk of atherosclerosis
3
Q
Familial hypercholesterolemia
A
corneal arcus
tendon xanthomas
AD defect LDL-R
AA has 700 mg/dL, Aa has 300 mg/dL
4
Q
vitamin D synthesis requires
A
cholesterol
5
Q
HMG CoA reductase function
A
HMG CoA to mevalonate
statins inhibit competitively and reversibly
6
Q
gluconeogenesis sources
A
lactate
alanine
glycerol
propionyl-CoA
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
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
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.
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
11
Q
XR lysosomal storage disease
A
Fabry disease and Hunter syndrome
12
Q
aseptic necrosis of femur, pancytopenia, megaly, bone crisis, osteoporosis
A
Gaucher disease
13
Q
onion skinning lysosomes, no hepatosplenomegaly
A
Tay Sachs
14
Q
optic atrophy, globoid cells
A
Krabbe disease
15
Q
dementia, ataxia lysosomal storage disease
A
metachromatic leukodystrophy
16
Q
gargoylism, airway obstruction
A
Hurler Syndrome
17
Q
accumulated cerebroside sulfate
A
metachromatic leukodystrophy
18
Q
accumulated galactocerebroside
A
Krabbe disease
19
Q
Deficient iduronate sulfatase
A
Hunter syndrome
20
Q
Deficient a-L-iduronidase
A
Hurler syndrome
21
Q
Deficient B-glucosidase
A
Gaucher disease
22
Q
Deficient glucocerebrosidase
A
Gaucher disease
23
Q
Deficient glucoce-6-phosphatase
A
Von Gierke disease
24
Q
Deficient a-1,4-glucosidase
Deficient a-1,6-glucosidase
A
Pompe disease
Cori disease
25
Glycogen storage disease treated with B6
McArdle disease
26
Glycogen storage disease where must avoid fructose, galactose
Von Gierke disease
27
Glycogen storage disease with arrhythmias
McArdle disease, from electrolyte abnormalities
28
Debranching enzyme works on...
parts are...
limit dextrin = 1 to 4 residues left from glycogen phosphorylase
4-a-D-glucanotransferase
a-1,6-glucosidase
29
Cystinuria
COLA in PCT, gut
treatment is potassium citrate, acetazolamide to alkalinize urine, penicillamine to chelate, hydration
urinary cyanide-nitroprusside test is diagnostic
30
Causes of homocystinuria
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)
31
maternal PKU
causes congenital heart defects
| mental, growth retardation
32
maple syrup urine disease treatment
thiamine supplement
| avoid Ile, Val, Leu
33
Neonate with poorly regulated respiration and temperature, delays
Carbamoyl phosphate synthetase I deficiency or cofactor N-acetylglutamate synthase deficiency (has hyperammonemia)
34
Hyperammonemia treatment
lactulose to acidify GI tract
rifaximin to decrease colonic bacterial production
benzoate or phenylbutyrate to bind AA
35
excess NH4 depletes
a-ketoglutarate, inhibiting TCA cycle
36
N's in urea
NH3 and aspartate
37
Cahill cycle
Alanine from muscle to liver becomes pyruvate via a-KG to Glu to urea, then pyruvate to glucose
Glucose back to muscle
38
aldose reductase
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
39
glucogenic amino acids
Met, Val, His
40
Fructose intolerance
aldolase B deficiency accumulating F1P
inhibits glycogenolysis and gluconeogenesis from P deficiency
hypoglycemia, jaundice, cirrhosis, vomiting
41
Classic galactosemia
can get infantile E coli sepsis
absent galactose-1-P uridyltransferase, which takes UDP from Glu, regenerates via 4-epimerase
42
pyruvate carboxylase location
mitochondria
activated by acetyl-CoA
43
glucose-6-phosphatase location
ER
44
PEPCK requires
GTP
45
Stimulates fructose-1,6-bisphosphatase
high citrate
| low F2,6bisP
46
muscle lacks
glucose-6-phosphatase
47
TCA cycle makes per 1 acetyl CoA
```
3 NADH
1 FADH2
2 CO2
1 GTP
= 10 ATP
```
48
pyruvate carboxylase
pyruvate to OAA
| needs CO2, ATP
49
increased serum alanine in infant, lactic acidosis, neuro defects
pyruvate dehyrogenase complex deficiency
give fat, lysine, leucine
50
hexokinase, glucokinase regulation
G6P inhibits hexokinase
| F6P inhibits glucokinase
51
glucokinase Vmax and Km
both higher
faster, less affinity
52
TPP carries
aldehydes
53
Arsenic
glycolysis makes 0 net ATP
inhibits lipoic acid
54
RLS of TCA cycle
isocitrate dehydrogenase
ADP +
ATP -
NADH -
55
CPS II regulation
UTP -
| ATP +
56
citrate regulatory
inhibits PFK1
| stimulates acetyl-CoA carboxylase
57
FA oxidation RLS
Carnitine acyltransferase 1
| Malonyl CoA -
58
In mitochondria
B oxidation - acetyl CoA production
TCA cycle - oxidative phosphorylation
ketogenesis
59
Etiology of alcoholic fatty liver
DHAP + NADH --> Glycerol-3-P, which makes TAG with FA
high NADH disfavors TCA, leads to acetyl-CoA excess
60
vitamin K dependant
2,7,9,10
"1972"
and C, S
61
Vitamin deficiency causing less adult hair, loss of taste, loss of smell
zinc
62
Vitamin excess precipitates calcium oxalate nephrolithiasis
vitamin C
also can cause Fe toxicity
63
Vitamin excess seen in granulomatous disease
vitamin D, activation by epithelioid macrophages
64
Vitamin deficiency causes acanthosis
vitamin E
65
Vitamin deficiency causes PC and spinocerebellar degeneration
vitamin E
66
B12 needed for
homocysteine to methionine
| methylmalonyl CoA to succinyl CoA
67
B6 needed for
homocysteine to cysteine
succinyl CoA to heme
glycogen phosphorylase
cystathione, niacin, histamine
5HT, E, NE, dopamine, GABA
68
causes biotin deficiency
Abx
avidin
69
causes B6 deficiency
isoniazid
| OCP
70
B6 deficiency causes
sideroblastic anemia, convulsions
| neuropathy
71
niacin B3 synthesis requires
B2 and B6
72
niacin excess
prostaglandin mediated flushing
hyperglycemia
hyperuricemia
73
B1 needed for
branched chain ketoacid dehydrogenase
transketolase (RBC test for deficiency diagnosis)
a-KG DH
pyruvate DH
74
vitamins stored in liver
B12
| folate
75
cri-du-chat causes...
VSD
epicanthal folds
microcephaly
76
Williams syndrome
hypercalcemia receptive to vit D
elvin
cardiovascular problems
77
chromosome for:
Friedrich ataxia
Wilms tumor
Wilson disease
9
11
13
78
increased nuchal translucency
Patau, Down
79
increased B-HCG
Down
80
increased inhibin A
Down
81
Patau syndrome
cutis aplasia
micropthalmia
microcephaly
82
ADPKD chromosomes
chr 4 - PKD2
| chr 16 - PKD1 (85%)
83
Fragile X syndrome has
mitral valve prolapse
post-pubertal macroorchidism
autism
= methylation of FMR1 gene
84
Myotonic dystrophy type 1
DMPK gene
cataracts, frontal balding, arrhythmia,
testicular atrophy
CTG
85
Duchenne
actin binding to a/B-dystroglycan
increase in CPK
increase in aldolase
frameshift mutation
86
Becker
non-frameshift mutation
87
OTC deficiency
XR
88
Thalassemia
AR
89
Hemochromatosis
AR
90
Kartagener syndrome
AR
91
Ocular albinism
XR
92
Albinism
AR
93
Wilson disease
AR
94
Cystic fibrosis diagnosis
Cl >60 mEq/L in sweat = Dx
contraction alkalosis and hypokalemia
increase in immunoreactive trypsinogen
95
AD
```
Li-Fraumeni
MEN
Hereditary hemorrhagic telangectasia (Osler Weber Rendu)
Hereditary spherocytosis
Tuberous sclerosis
```
96
Li-Fraumeni
SBLA
| sarcome, breast, leukemia, adrenal gland
97
FBN1 mutation
Marfan syndrome, chr 15
| upward lens subluxation
98
RET gene
MEN2A, 2B
99
Huntington NT changes
increase dopamine
decrease GABA
decrease ACh
100
Lisch nodules
iris hamartomas in NF1
101
XD disease
hypophosphatemic rickets
vitamin D resistant, P wasting at PT
102
Uniparental disomy percent in Prader-Willi, Angelman
Prader-Willi - 25% maternal UPD
| Angelman - 5% paternal UPD
103
frequency of XR in males
| frequency of XR in females
q
| q^2
104
McCune-Albright syndrome
```
G-protein signaling mutation
unilateral cafe-au-lait
polyostotic fibrous dysplasia
precocious puberty
endocrine abnormalities
```
lethal if mutation before fertilization
survivable if mosiacism
105
locus heterogeneity
albinism
106
allelic heterogeneity
B-thalassemia
107
Codominance
a-1-AT deficiency
108
Dominant negative mutation
TF mutated in allosteric site still can bind DNA, blocking wild-type binding
109
Cre-lox system
manipulate genes at developmental points
110
RNA interference uses
dsDNA
111
Southwestern blot
oligonucleotide probles
| DNA-binding-protein target
112
can detect copy number variations
microarray
113
Menkes disease
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
Classical Ehler-Danlos
Type V collagen
115
Collagen content
1/3 glycine
made, hydroxylated, glycosylated in RER
116
Procollagen
triple helix of alpha chains with H bonds and disulfides
helix issue? osteogenesis imperfecta
117
Problem with cross-linking collagen into fibrils
Ehler Danlos
| Menkes disease
118
Ouabain
inhibits by binding to K site of Na/K pump
119
Na/K pump phosphorylated
3 Na out
120
collagen in cornea
Type 1
121
collagen in nucleus pulposis
Type 2
122
collagen in lens
Type 4
123
collagen in fascia
Type 1
124
collagen in dentin
Type 1
125
Bound to a-B-tubulin dimer
2 GTP
126
I cell disease
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
To target RER
SRP
128
To target cis-Golgi from ER
COPII
129
trans-Golgi to lysosomes
clathrin
130
Golgi to Golgi
COPI
131
cis-Golgi to ER
COPI
132
peroxisome
breakdown VLCFA, branched chain FA, AA
133
rich in RER
goblet cells of SI
| plasma cells - Ab
134
rich in SER
hepatocytes
steroid hormone producing cells
-adrenal cortex, gonads
135
Labile tissue
No G0 phase
BM, gut surface, skin, follicles, germ cells
136
stable tissues
can stimulate to enter G1 from G0
liver, lymphocytes
137
tRNA parts
```
T arm binds ribosome
D arm recognizes correct aatRNAsynthetase
5' CCA 3'
5' CAU 3' binds AUG
75-90 AA
```
138
anti-Smith antibodes
Ab to spliceosomal snRNPs
| highly specific for lupus
139
abnormal splicing
B-thalassemia
140
a-amanitin
inhibits RNA pol II (mRNA)
| severe hepatotoxicity
141
cytoplasmic P-bodies
mRNA quality control
exonucleases, decapping enzymes, microRNAs
can store mRNA too
142
enhancer binds
transcription factors
can be near, far, or in an intron
143
fMet
prokaryotes
144
mutated in ataxia telangectasia and Fanconi anemia
nonhomologous end joining
145
MMR phase
G2
146
BER phase
throughout
uses AP endonuclease to cleave 5'
uses lyase to cleave 3'
DNA pol beta and ligase fill
147
NER phase
G1
148
cAMP level needed for lac operon
high (from low glucose)
149
3' to 5' exonuclease
DNA pol III (prokaryotic only)
leading and lagging elongation, initiates
150
5' to 3' exonuclease
DNA pol I for primase activity (prokaryotic only)
leading and lagging elongation
151
telomerase
RNA dep DNA pol
152
Adenosine deaminase deficiency
AR SCID
excess dATP, ATP feedback inhibit ribonucleotide reductase
153
tryptophan
UGG
154
ribavirin
inhibits IMP dehydrogenase (like mycophenolate)
155
leflunamide
inhibits dihydrooratate dehydrogenase
156
pyrimethamine
inhibits DHF-reductase
| decrease dTMP
157
histone methylation
usually inhibits transcription
