Biochem Flashcards
1
Q
Error in Meiosis I vs Meiosis II–what will RFLP fragments look like in a child with down’s syndrome?
A
Meiosis I: Will have three different chromosomes in the child
Meiosis II: will have duplicates of one chromosome and then one more chromosome
2
Q
Symptoms of fragile X
A
Macroorchidism
Dysmorphic face
Cognitive impariment
Aggressiveness
3
Q
What is the defect in fragile X? And which gene does it appear on?
A
Trinucleotide repeat CGG
–Occurs on FMR-1 gene on the X chromosome
4
Q
Short broad finers and transverse palmar creases
A
Down’s syndrome
5
Q
Precursor of tyrosine
A
phenylalanine
6
Q
Precursor of catecholamines
A
tyrosine
7
Q
precursor or urea and nitric oxide
A
arginine
8
Q
Precursor of niacin
A
tryptophan
9
Q
Pellagra features
A
dermatitis, diarrhea, dementia
10
Q
Pellagra is a deficiency in
A
niacin
11
Q
asymp pt with high fructosuria
A
defective fructokinase
12
Q
How does pt with essential fructosuria metabolize fructose?
A
hexokinase converts it to fructose 6 phosphate when can then be converted to pyruvate through a number of steps
13
Q
hexokinase
A
converts glucose–>G6P
converts fructose–>F6P (pathway not significant in normal individuals)
14
Q
aldose reductase
A
converts glucose to sorbitol
15
Q
PFK 1
A
Converts F6P to F1,6BP
16
Q
FBP phosphatase-1
A
Converts F1,6BP to F6P
17
Q
fructokinase
A
Fructose–>Fructose1P
18
Q
Aldolase B
A
Fructose1P–>DHAP and glyceraldehyde
19
Q
Triokinase
A
Glyceraldehyde–>G3P
G3P can then be used to generate pyruvate
20
Q
Aldolase A (and B)
A
Combines G3P and DHAP to make F1,6BP
21
Q
Carbon tetrachloride
A
Damages through free radical CCl3
–degrades lipis and produces hydrogen peroxide
22
Q
how does huntington’s dz cause effects?
A
CAG repeats which causes hypermethylation of histones
23
Q
Tx: lead poisoning
A
dimercaprol/EDTA
24
Q
Rb gene regulates:
A
TUMOR suppressor that regulates G1-S transition
25
Rb tumor?
retinoblastoma
osteosarcoma
breast/lung/colon
26
Ras pathway
MAP kinase
27
Ras tumor
follicular thyroid cancer
28
Bcl2
follicular lymphoma
29
Gm2 ganglioside accumulation
Tay Sachs
30
heparan sulfate and dermatan sulfate accumulation
Deficiency in alpha-L iduronidase
31
Deficiency in alpha L iduronidase
Hurler syndrome
32
Glucocerebroside accumulation
Gaucher disease
33
Deficiency of glucose 6 phosphatase
Von Gierke
34
Deficiency of lysosomal alpha 1,4 glucosidase
Pompe disease
35
Accumulation of ceramide trihexoside
alpha galactosidase A deficiency
| Fabry disease
36
angiokeratomas, acroparesthesia, hypohidrosis and renal failure
Fabry disease
37
Deficiency of sphingomyelinase
Niemann pick
38
Presentation of Niemann pick
Hepatosplenomegaly
hypotonia
cherry red macular spot
39
Foamy histiocytes
foamy histiocytes
40
Inheritance of niemann pick
autosomal recessive. Die by age 3
41
microganthia, low set ears, rocker bottom feet. Over-riding fourth and fifth fingers
Edwards syndrome, trisomy 18. Usually fetal death
42
```
cleft lip and palate
polydactyly
microcephaly
rocker bottom feet
umbilical hernia
```
Patau syndrome
| Trisomy 13. Fetal death
43
Which vitamin is used to make NAD/NADH?
niacin
44
Four signs of niacin deficiency
dermatitis
dementia
diarrhea
death
45
Which vitamin is essential for a transamination reaction?
B6 (pyradoxine)
Transaminases are necessary for synethesizing amino acids
46
Thiamine is used in which enzymes
transketolase, alpha-ketoglutarate dehydrogenase, and pyruvate dehydrogenase
47
Riboflavin is used for:
FMN and FAD dehydrogenase rxns
48
Biotin is used for:
Carboxylases
1. pyruvate carboxylase
2. acetyl CoA carboxylase
3. Propionyl CoA carboxylase
4. 3-methylcrotonyl-CoA-carboxylase
49
Pleiotropy
One gene has many effects
50
Methotrexate inhibits
DHFR reductase. Results in a build up of DHF.
Blocks BOTH folid acid-->DHF AND DHF-->THF
51
Folinic acid is also known as
leucovorin. A form of THF that can bypass DHFR in pts getting methotrexate
52
5 FU
Inhibits thymidylate synthase which converts N5,N10 methylene THF back to DHF
53
Pantothenic acid
Makes coenzyme A. Necessary for AcetylCoA in first step of TCA+oxaloacetate-->citrate
Also synthesis of vitamin AD, cholesterol, steroids, lots of stuff
54
Sx of pantothenic acid deficiency
burning feet and GI distress
55
DiGeorge=deletion on chromosome...
22
56
Battery factories at risk for poisoning of:
lead. Also mining, chemical processing, radiator repair, recycling
57
Sx of lead poisoning
GI distress
lead line on gum
peripheral neuropathy (wrist/ankle drop)
58
Single palmar crease
Down's syndrome
59
Resistance to chemotherapeutic agents (broad range) comes from
MDR1 gene for P-glycoprotein, a ATP dependent efflux pump
60
What does southwestern blot measure?
DNA-bound protein
61
You need lipoic acid for...
```
Pyruvate dehydrogenase (lactic acidosis)
alphaketoglutarate dehydrogenase
branched-chain ketoacid DH (maple syrup urine disease)
```
62
PDH co-enzymes
thiamine
lipoic acid
CoA, FAD, NAD_+
-->if absent, will build up lactate
63
Reye's syndrome
giving aspirin to children causes:
1. Hepatic dysfunction. Microvesicular steatosis with high ALT, AST, ammonia, and bili
2. Encephalopathy of Reye's. Hyperammonemia causes cerebral edema and coma
64
Osler-Weber-Rendu syndrome
telangiectasis in skin and mucosal membranes. Epistaxis, GI bleeding, hematuria result
65
Inheritance of osler weber rendu
Autosomal dominant
66
Which drugs inhibit DHFR?
Trimethoprim, methotrexate, and pyrimethamine
67
Elongation factorsq
facilitate tRNA binding and translocation in protein synthesis
68
How do you clinch the dx of riboflavin deficiency?
glutathione reducase assy
| urinary riboflavin excretion
69
action of riboflavin
Used to synthesize FMN and FAD, components of Complex I and II.
- -Also, an electron carrier in TCA cycle
- -Also a cofactor for succcinate dehydrogenase
70
Explain the process of base excision repair
1. glycosylase cleaves out wrong base pair match
2. endonuclease cleaves 5' end
3. lyase cleaves 3' sugar phosphate backbone
4. DNA polymerase and ligase fill gaps
71
Cystic fibrosis causes what protein level changes?
defective post translational folding and glycosylation. Thus CFTR is degraded before it reaches the surface
72
leucovorin
N5-formyl THF does NOT need reduction by DHFR. Bypasses methotrexate block.
73
How does leucovorin interact with 5-FU
potentiates effect. 5-FU works better in the presence of folate in order to complex with thymidylate synthetase.
74
Trisomy 13 is caused by:
defect during maternal meiosis I
75
Nondisjunction in meiosis I causes
An extra chromosome, with an extra allele
76
Nondisjunction in meiosis II causes
An extrachromosome, with an extra IDENTICAL chromosome
77
47,xxx
clinically silent. maybe less IQ
78
47 xyy
phenotype=normal
| tall, severe acne, some motor/language delays
79
long term complication of Edwards syndrome
meckel's and malrotation
80
long term complication of patau
they usually die!
- holoprosencephaly, NTD
- PDA< ASD< VSD
- PCKD
- pyloric stnosis, omphalocele
81
HOCM caused by
cardiac sarcomere protein defect in the beta-myosin gene
82
HOCM inheritance
autosomal dominant
83
Causes of genetic dilated cardiomyopathy
AD dystrophin/mitochondrial enzyme mutations
84
Gallstones caused by
high cholesterol
| low bile acids and low phosphatidylcholine
85
During times o plenty, what is the rate limiting step of fatty acid synthesis?
Acyl-CoA carboxylase
86
Glucose 6 phosphatase
Produces free glucose form glucose 6 phosphate
87
which enzyme catalyzes the first step in the beta oxidation pathway?
acyl CoA dehydrogenase
88
melting temperature of DNA depends on
GC content (3 hydrogen bonds)
89
hydroxyurea inhibits
ribonucleotide reductase
| --UDP to dUDP
90
Ornithine transcarbamoylase deficiency leads to an accumulation of
carbamoyl phosphate-->orotic acid
91
6 mercaptopurine
Blocks purine synthesis
| PRPP-->IMG
92
5 FU
inhibits thymidylate synthase
| --lack of dTMP
93
methotrexate
blocks DHFR
| --Converts DHF to THF needed for thymidylate synthase
94
trimethoprim
inhibits bacterial DHFR
95
Orotic aciduria
Inability to convert orotic acid to UMP
| --Defect in UMP synthase
96
inheritance of orotic aciduria
autosomal recessive
97
Increase in orotic acid in urine, megaloblastic anemia that does NOT improve with B12, failure to thrive, No hyperammonia
orotic aciduria
98
Treatment of orotic aciduria
oral uridine administration
99
Aldolase B
Converts Fructose 1 P to DHAP and glyceraldehyde
100
which codons are NOT degenerate?
methionine and tryptophan
101
xanthine oxidase
Converts hypoxanthine-->xanthine
then
xanthine-->uric acid
102
adenosine deaminase converts
adenosine to inosine-->hypoxanthine
- -cannot break down adenine
- -excess adenine
- -feedback inhibition of ribonucleotide reductase
103
inheritance of adenosine deaminase
autosomal recessive
104
Lesch Nyhan syndrome
Loss of HGPRT
- -block of guanine to GMP
- -block of hypoxanthine to IMP
105
Retardation, self mutilation
| aggression, hyperuricemia, gout, and choreoathetosis in a kid
Lesch-Nyhan
106
which amino acids are NOT degenerate?
methionine (AUG)
| tryptophan (UGG)
107
commaless, nonoverlapping genetic code
read from a fixed starting point. a continuous sequence of bases
108
missense mutation
Changed amino acid
109
single origin of replication
prokaryotes
110
multiple origins of replication
eukaryotes
111
fxn: DNA topoisomerases
Nick in helix=relieve supercoils
112
DNA poly III
ONLY prokaryotic
| --3' to 5' exonuclease activity for proofreading
113
DNA poly I
prokaryotic only. degrades RNA primer and replaces it with DNA.
5'-->3' exonuclease activity
114
telomerase
Adds DNA to 3' end of DNA to avoid loss of genetic material
115
nucleotide excision repair
ENDONUCLEASES cut out oligonucleotides with damaged bases
116
xeroderma pigmentosum
mutated nucleotide excision repair
117
base excision repair
GLYCOSYLASES remove damaged bases
118
base excision repair is important in
toxic or spontaneous deamination
119
ataxia telangiectasia mutation
nonhomologous end joining
120
what forms connection btw DNA bases?
3' end OH attackes the phosphate on 5'
121
most abundant RNA
rRNA
122
longest RNA
mRNA
123
smallest RNA
tRNA
124
AUG in prokaryotes codes for
formylmethionine
125
Promoter
Site where RNA poly and other transcription factors bind to DNA upstream from gene locus
126
Enhancer
changes gene expression by binding transcription factors
127
Silencer
repressors bind here
128
Where are enhancers and silencers located?
Close to, far from, or within the gene
129
RNA poly I
rRNA. most numerous type of RNA
130
RNA poly II
mRNA, largest RNA
131
RNA poly III
tRNA
132
what's different about the prokaryotic RNA?
it makes a single RNA polymerase
133
pt eats a mushroom called amanita phalloides and dies. Very high LFTs. mechanism?
a-amanitin
- -inhibits RNA polymerase II
- -Causes severe hepatotoxicity if ingested
134
heterogeneous nuclear RNA
initial RNA transcript. may NOT necessarily be translated
135
pre-mRNA vs heterogeneous
pre-mRNA is DESTINED for translation
136
where does mRNA processing occur?
In the nucleus.
| --If no processing, then mRNA will NOT leave the nucleus
137
three processing steps in mRNA
1. 5' 7-methylguanosine cap
2. polyadenylation tail
3. splicing
138
polyadenylation signal
AAUAAA
139
pre mRNA vs RNA
RNA has been processed and left the nucleus
140
antibodies to snRNPs
lupus
141
snRNP function
Forms a lariat to remove introns
142
what is at the 3' end of tRNA
CCA
143
Aminoacyl-tRNA synthetase
scrutinizes amino acid before and after binding tRNA to it
144
tRNA uses what energy source to attach AA?
ATP
145
tRNA uses what energy source to translocate tRNA from one ribosomal site to another?
GTP
146
antibiotic: binds 30 S and inhitibts formation of initiation complex, and causes misreading
aminoglycosides
147
Block aminoacyl tRNA from entering acceptor site
tetracyclines
148
Block peptidyl transferase
chloramphenicol
149
Blocks release of tRNA after it has donated AA
macrolides
150
trimming
removal of N/C propeptides from zymogens to generate mature proteins
151
p53 and hypophosphorylated Rb inhibit
G1 to S progression
152
RER vs cytosolic ribosomes
cytosolic ribosomes make proteins for intracellular use, not secretion.
153
Golgi actions
1. modifies N oligosaccharide on asparagine
2. adds mannose-6 phosphate to proteins for trafficking to lysosomes
3. Adds O oligosaccharides on serine/threonine
154
coarse facial features
clouded cornea
restricted joint movement
high plasma levels of LYSOSOMAL enzymes
I cell disease.
155
Cause of I cell disease
failure of addition of mannose 6 phosphate to lysosome proteins
156
COPI protein
Transports within Golgi in RETROgrade fashion to ER
157
COPII protein
Transports within Golgi in ANTEROgrade fashion from ER to golgi
158
ubiquitin associated with
proteasome
159
peroxisome breaks down
long fatty acids and amino acids
160
bacterial infections
partial albinism
peripheral neuropathy
chediak higashi syndrome
161
dynein
retrograde transport (+ to -)
162
kinesin
anterograde transport (- to +)
163
Drugs that act of microtubules
mebendazole
griseofulvin
cholchisine
paclitaxel
164
WHat allows cilia to move?
axonemal dynein: an ATPase with a dynein arm
165
Intermediate filaments are used for
maintaining structure
- vimentin
- desmin
- cytokeratin
- lamins
- GFAP
166
vimentin stains for
connective tissue
167
desmin stains for
muscle
168
cytokeratin stains for
epithelial cells
169
GFAP stains for
neuroglia
170
Neurofilaments stains for
neurons
171
ouabain
inhibits the K bindings site of Na/K ATPase
172
Type I collagen
bone, skin, tendon
173
Type II collagen
cartilage
174
Type III collagen
Reticulin
175
Type IV collagen
Basement membrane
176
Ehler danhlos has what collagen defect?
type III
177
fibrillin fxn
sheath around elastin
178
fibronectin fxn
Binds integrins on cell surface to ECM components (ex: collagen)
179
Four steps of collagen synthesis INSIDE fibroblasts
1. Synthesis (Gly-Pro-Lys)
2. Hydroxylation of proline and lysine
3. Glycosylation of hydroxylysine and triple helix formation held by H and disulfide bonds
4. Exocytosis of procollagen into extracellular space
180
Four steps of collagen synthesis OUTSIDE fibroblasts
1. cleavage of disulfide terminal regions of procollagen=ins=insoluble
2. cross linking of lysine-hydroxyllysine to make collagen
181
vitamin C affects
hydroxylation of proline and lysine residues
182
ehlers danlos affects what part of collagen synthesis?
cross linking of tropocollagen
183
osteogenesis imperfecta inheritance
autosomal dominant
184
ehler danlos associated with
joint dislocation
berry aneurysms
organ rupture
185
Inheritance of alport syndrome
X linked recessive
186
presentation of alport
progressive deafness and nephritis
187
elastin fxn
stretchy component of skin, lungs, large arteries, ligamenta flava
188
Elastin is rich in what components?
Proline and glycine
189
what gives elastin its elastic properties
cross linking
190
Southwestern blot
identifies DNA binding proteins
- -with labeled oligonucleotides
- -Example: Leucine zipper
191
microarrays are used to detect
Single nucleotide polymorphism
192
Indirect vs direct elisa
Indirect: uses an antigen to detect an antibody
Direct: uses a test antibody to detect an antigen
193
RNA interference
dsRNA used to promote degradation of a target mRNA
194
Lac I
repressor protein
195
Lac P
promoter site
196
Lac O
operator region
197
Lac Z
B-galactosidase
198
Lac Y
permease (lets lactose into cell)
199
Describe Lac operon when lactose is not present
LAC I is being synthesized
- -repressor protein binds to operator preventing transcription
- -high glucose, low CAMP, no CAP binding
200
Describe lac operon when lactose IS present
Lactose binds repressor protein made by Lac I
- -operator is open
- -polymerase attaches
201
variable expressivity
phenotype varies among individuals with the same phenotype
202
pleiotropy
```
one gene
multiple phenotypes (PKU)
```
203
linkage disequilibrium
tendency for alleles at 2 loci to occur together more frequently than expected by chance
204
Locus heterogeneity
mutations at different loci produce the same phenotype. Ex: albinism
205
heteroplasmy
Presence of both normal and mutated mitochondrial DNA
206
uniparental disomy
two copies of a chromosome from one parent, none from the other
207
heterodisomy
offspring is heterozygous for alleles, both from one parent
208
isodisomy
offspring is homozygous for alleles, both from one parent
209
heterodisomy= error in meiosis I or II?
Meiosis I
210
isodisomy=error in meiosis I or II?
Meisosis II
211
```
mental retardation
hyperphagia
obesity
hypogonadism
hypotonia
```
prader willi
212
mental retardation
seizures, ataxia
inappropriate laughter
angelman's
213
Praeder willi caused by
Paternal allele not expression (mom is always silenced)
214
Angelman caused by
Maternal allele not expressed (dad is always silenced)
215
Praeder willi and angelman's syndromes are on chromosome
15
216
stroke like episodes, lactic acidosis with ragged red fibers on modified Gomori trichrome stain
mitochondrial encephalopathy
217
myoclonic epilepsi with ragged red fibers
MERRF
218
achondroplasia inheritance
Dom
219
FAP inheritance
dom
220
cystic fibrosis inheritance
recessive
221
albinism inheritance
recessive
222
marfan's inheritance
dominant
223
MEN inheritance
dominant
224
thalassemia inheritance
recessive
225
huntington's inheritance
dominant
226
hereditary hemorrhagic telangiectasia (osler-weber, rendu) inheritance
dominant
227
spherocytosis inheritance
dominant
228
familial hypercholesterolemia inheritance
dominant
229
glycogen storage disease inheritance
recessive
230
hemochromatosis inheritance
recessive
231
phenylketonuria inheritance
recessive
232
sphingomyelinase inheritance
recessive
233
ADPKD chromosome
16
234
FAP chromosome
5
235
ADPKD associated with
berry aneurysms
| mitral valve prolapse
236
telangiectasias,
nose bleeds
skin discolorations
AVMs
osler-weber rendu
237
Huntington's disease located on chromosome
4
238
NF1 on chromosome
17
239
NF2 on chromosome
22
240
VHL on chromosome
3
241
CF gene on chromosome
7
242
fxn of CFTR channel
1. secretes Cl- from lungs and GI tract
2. reabsorbs Cl- from sweat
IN CF, this channel has a problem in post-translational processing, resulting in proteasomal degradation after synthesis
243
Tx: CF
N-acetylcysteine to loosen mucus plugs
244
X linked recessive disorders
B Wise Fool's GOLD Has Silly HOpe
- -Bruton's x linked agammaglobulinemia
- -Wiskott-Aldrich
- -Fabry's
- -G6PD
- -Ocular albinism
- -Lesch-Nyhan
- -Duchenne's
- -Hunter's syndrome
- -Ornithine transcarbamoylase deficiency
245
huntington's disease on chromosome
4
246
Duchenne's caused by
deleted dystrophin. Longest gene, so higher rate of spontaneous mutation
247
Onset of becker's
teens or YA
| --Duchenne presents before 5 years of age
248
Function of Duchenne's
Anchors muscle fibers in skeletal and cardiac
249
achondroplasia gene
FGF3
250
Large testes, jaw, and ears
autism
mitral valve prolapse
Fragile X
251
Fragile X gene
FMR1
252
trinucleotide in fragile X
CGG
253
myotonic distrophy mutation
CTG
254
friederich's ataxia mutation
GAA
255
dx of CF
1. excess chloride in sweat
| 2. transepithelial potential difference
256
pyruvate kinase
PEP-->pyruvate
257
lactate dehydrogenase
pyruvate-->lactic acid
258
pyruvate decarboxylase
pyruvate-->oxaloacetate
259
Pyruvate dehydrogenase
pyruvate-->acetylcoA
260
ultrasound shows increased nuchal translucency in first trimester
down's syndrome or patau
261
quad screen in down's syndrome
1. decreased a-FP
2. Increased bHcG
3. decreased estriol
4. increased inhibin A
262
Down's syndrome=increased risk of
ALL
| Alzheimer's
263
Quad screen
1. low aFP
2. low hCG
3. low estriol
4. normal inhibin A
Edwards
264
Quad screen
1. low hCG
2. low pAPP-A
3. Increased nuchal translucency
patau
265
most common cause of Down's
meiotic nondisjunction
266
mental retardation, rocker bottom feet, congenital heart disease
--low set ears, micrognathia
Edwards. Die within 1 year
267
mental retardation, rocker bottom feet, congenital heart disease
- -cleft lip
- -polydactyly
- -holoprosencephaly
Patau. Die within 1 year
268
Robertsonian translocation
when short arms of chromosome are lost. balanced translocations usually are normal.
269
robertsonian translocation occurs on chromosome pairs
13,14,15,21,22
270
baby with high pitched mewing
- -microcephaly
- -retardation
- -epicanthal folds
- -VSD
Cri du chat
271
deletion in cri du chat
chromosome 5p
272
elfin facies
- -hypercalcemia
- -extreme friendliness with strangers
- -cardiovacscular problems
williams
273
Williams caused by deltion on
chromosome 7. includes deletion of elastin gene
274
22q11 deletion sx
CATCH 22
- Cleft palate
- abnormal facies
- thymic aplasia
- cardiac defects
- hypocalcemia
275
digeorge
22q11
| -thymic, parathyroid, cardiac problems
276
velocardiofacial syndrome
22q11
| -palate, facial, cardiac defect
277
vitamin toxicity most common with which vitamins?
A,D,E,K
278
B1
thiamine
279
B2
riboflavin
280
B3
niacin
281
B5
pantothenic acid
282
B6
pyridoxine
283
B7
biotin
284
B9
folate
285
vitamin C
ascorbic acid
286
which water soluble vitamins are stored for a long time in the body?
B12 and folate (in liver)
287
night blindness and dry skin
Vitamin A deficiency
288
arthralgias, fatigue, alopecia, sore throat, headaches
vitamin A excess
289
Thiamine is a cofactor for
1. pyruvate dehydrogenase
2. alpha ketoglutarate dehydrogenase
3. transketolase
4. branched chain amino acid dehydrogenase
290
alcoholic with malnutrition presents with polyneuritis, and symmetrical muscle wasting
Dry beriberi
291
alcoholic with malnutrition presents with dilated cardiomyopathy and edema
wet beri beri
292
riboflavin function
Cofactor in oxidation and reduction (FADH2)
293
cheilosis, corneal vascularization
vitamin B2 deficiency
294
niacin fxn
NAD and NADP+ component
295
niacin is derived from
tryptophan
296
synthesis of niacin requires
B6
297
pellagra
niacin deficiency
298
diarrhea, dementia, dermatitis
pellagra
299
hartnup disease
decrease in tryptophan absorption
300
causes of niacin deficiency
1. malignant carcinoid (use up all your tryptophan)
2. INH (low B6)
3. pellagra
301
fxn: pantothenate
component of CoA and fatty acid synthase
302
dermatitis, enteritis, alopecia
| --adrenal insufficiency
B5 deficiency
303
pyridoxine fxn:
1. heme synthesis
2. neurotransmitter synthesis
3. transamination, decarboxylation, and glycogen phosphorylase
304
convulsions, hyperirritability, peripheral neuropathy, sideroblastic anemias
pyridoxine deficiency
305
Biotin fxn
1. pyruvate carboxylase
2. acetyl coA carboxylase (acetylCoA-->malonylCoA)
3. propionyl-CoA carboxylase (propionyl-CoA-->methylmalonylCoA)
306
excessive ingestion of raw eggs with dermatitis, alopecia, enteritis
biotin deficiency
307
Folic acid use
Makes THF, tetrahydrofolate
308
B12 vs folate deficiency
B12 has neuro symptoms
309
which vitamins do you get from leafy green veggies?
1. Vitamin A
| 2. Vitamin B9 (folate)
310
vegans at risk for which vitamin deficiency?
B12
311
subacute combined degeneration
B12 deficiency
312
infectious cause of B12 deficiency
diphyllobothrium latum
313
B12 is a cofactor for
1. homocystein methyltransferase
| 2. methylmalonyl-CoA
314
S-adenosyl-methionine
donates methyl units
| --converts NE to epinephrine
315
regeneration of methionine is dependent on
B12 and folate
316
methionine is made of
homocystein + CH3
317
To regenerate homocystein, you need
homocystein methyltransferase
| -->Addsmethyl group from THF-CH3
318
vitamin C helps with the absorption of
iron. Therefore, don't give to people with hemochromatosis or regular transfusions
319
vitamin C fxn
hydroxylation of proline and lysine in collagen synthesis
| --dopamine B hydroxylase: converts dopamine to NE
320
hypercalcemia and hypercalciuria in pt taking too many vitamins
Vitamin D overdose.
321
vitamin D overdose is more common in what condition?
sarcoidosis
322
Vitamin E fxn
protects erythrocytes and membranes from free radical damage
323
hemolytic anemia and posterior column demyelination: what vitamin deficiency?
vitamin E. E is for erythrocytes
324
Vitamin K fxn
gamma carboxylation of gutamic acid on clotting proteins
325
which vitamins are missing from breast milk?
Vitamin D and K
326
loss of smell, delayed wound healing, hypogonadism, and decreased adult hair
ziinc deficiency--predisposes to alcoholic cirrhosis
327
fomepizole use
For methanol or ethylene glycol poisoning
328
mech: fomepizole
inhibits alcohol dehydrogenase
329
disulfiram mechanism
inhibits acetaldehyde dehydrogenase
330
Explain how ethanol causes acidosis and fatty acid synthesis and hypoglycemia
All caused by increased push to regenerate NAD+
1. pyruvate-->lactic acid
2. oxaloacetate-->malate
- ->malate excess inhibits gluconeogenesis
- ->shuts down TCA cycle
- ->acetylcoA goes to ketone
- ->excess NADPH from breakdown of malate
- ->fatty acid synthesis
331
Kid with malnutrition, edema, anemia, and fatty liver
Kwashiorkor
332
marasmus
muscle wasting from malnutrition
333
Fatty acid synthesis occurs in the
cytoplasm
334
HMP shunt occurs in the
cytoplasm
335
acetylcoA production occurs in the
mitochondria
336
Which processes occur both in the mitochondria and cytoplasm?
heme
| gluconeogenesis
337
RDS glycolysis
PFK1
338
RDS gluconeogenesis
F1,6 bisphosphonate
339
RDS TCA cycle
isocitrate dehydrogenase
340
RDS glycogen synthesis
glycogen synthase
341
RDS glycogenolysis
glycogen phosphorylase
342
RDS HMP shunt
g6PD
343
RDS pyrimidine synthesis, de novo
carbamoylphosphate synthetase II
344
RDS purine synthesis de novo
glutamine PRPP amidotransferase
345
RDS urea cycle
carbamoyl phosphate synthetase I
346
RDS fatty acid synthesis
AcetylCoA carboxylase
347
RDS fatty acid oxidation
carnitine acyltransferaseI
348
RDS ketogenesis
HMG coA synthase
349
What regulates carnitine acyltransferase I in fatty acid oxidation?
malonyl coA inhibits
350
Glucokinase found in
Liver and beta cells of the pancreas.
351
which is induced by insulin, glucokinase or hexokinase?
glucokinase. High capacity but low affinity
352
Very long chain fatty acids are degraded by
peroxisomes. Cannot undergo beta oxidation by mitochondria
353
8 month old with hyperactivity, tremor, and seizures. Pt has blue eyes, fair skin, and mousy odor
Phenylketonuria
354
What do you need to supplement PKU with?
Tyrosine. Can no longer synthesis tyrosine from phenylalanine
355
Describe the G protein pathway
1. Activation of adenylate cyclase
2. Activation of protein kinase A
3. physiologic effects
356
Which hormones use G protein receptors?
1. TSH
2. Glucagon
3. PTH
4. Beta adrenergic receptors
357
Pt presents with increased serum methionine and severe chest pain and MI
homocystinuria.
| --defect in cystathionine beta synthetase (converts homocystine to cystathionine.
358
Most common cause of PKU
deficiency of phenylalanine hydroxylase
359
mutation in Sickle Cell Disease
Pt replaces glutamate with valine, a nonpolar amino acid. This changes the charge
--In hemoglobin C, lysine replaces the glutamate residue, making it less negatively charged. Usually asymptomatic but mild hemolytic anemia and splenomegaly
360
Effect of hyperammonia in the brain
depletion of glutamate and accuulation of glutamine
361
ALA synthase requires what vitamin?
pyridoxal phosphaet
362
tyrosine kinase effect after binding
phosphorylation of protein phosphatase
363
Why is Fructose 1 phosphate metabolized much faster than glucose?
It bypasses the major regulatory step in glycolysis=PFK1
364
HGPRT converts
guanine back to GMP
and
Hypoxanthine to IMP
365
adenosine deaminase
coverts adenosine to inosine to be broken down to hypoxanthine or recycled to IMP
366
16S rRNA in prokaryotic ribosome
Contains complementary mRNA sequence necessary for binding shine delgarno and translation
367
Translocation of aatRNA requires
GTP
368
23S rRNA
facilitates peptide bond formation
369
which vitamin can you give to a kid with measles?
vitamin A
370
how is alanine converted back to pyruvate?
combined with a-ketoglutarate
371
Describe the mTOR pathway
1. autophosphorylation of tyrosine
2. Phosphoinositide 3 kinase activation
3. Activation of protein kinase B
4. Increased gene transcription
- -THIS PATHWAY IMPORTANT IN APOPTOSIS AND CEL PROLIFERATION
