Biochemistry/Nutrition Flashcards
(417 cards)
1
Q
What is vitamin B1? What is the main molecule where vitamin B1 is found?
A
thiamine
thiamine pyrophosphate
2
Q
What is vitamin B2? What are the main two molecules that vitamin B2 is found?
A
riboflavin
FAD and FMN
3
Q
What is vitamin B5? What is the main molecule where vitamin B5 is found?
A
pantothenic acid
co-enzyme A
4
Q
What is vitamin B6? What is the main molecule where vitamin B6 is found? What type of enzymatic rxn is B6 involved in?
A
pyridoxal phosphate
PLP
aminotransferase
5
Q
What is vitamin B7?
A
biotin
6
Q
What is vitamin B9?
A
folate
7
Q
What is vitamin B12?
A
cobalamin
8
Q
What is another name for vitamin A?
A
retinol
9
Q
What vitamin is necessary for differentiation of epithelial tissues?
A
vitamin A
10
Q
Deficiency of what vitamin can cause corneal degeneration?
A
vitamin A
11
Q
What type of enzyme is vitamin B1 needed for?
A
dehydrogenase
12
Q
What are four dehydrogenases vitamin B1 is necessary for?
A
- α-ketoglutarate dehydrogenase
- transketolase
- PDH
- branched-chain ketoacid dehydrogenase
13
Q
Wernicke-Korsakoff affects what two structures in the brain?
A
Mamilary bodies
Medial Dorsal Nucleus of Thalamus
14
Q
B1 deficiency impairs the breakdown of what metabolic product?
A
glucose
15
Q
What two tissues are affected first by Wernicke-Korsakoff Syndrome?
A
brain and heart
16
Q
How are WK and Beriberi diagnosed?
A
increased transketolase activity of RBCs after B1 infusion
17
Q
What are two signs of vitamin B2 deficiency?
A
Cheliosis and Corneal vascularization
18
Q
What type of reaction is B2 used in?
A
redox
19
Q
What B vitamin is derived from tryptophan?
A
niacin
20
Q
The synthesis of niacin requires what two B vitamins?
A
B2 and B6
21
Q
What B vitamin can be used to treat dyslipidemia? What is raised and lowered?
A
B3
VLDL = lowered
HDL = raised
22
Q
What amino acid is not absorbed in Hartnup disease? What B vitamin is administered to relieve the effects?
A
tryptophan
Niacin
23
Q
Deficiency of what two products can lead to pellagra?
A
Niacin or Tryptophan
24
Q
Malignant carcinoid consumes what amino acid in excess?
A
Tryptophan
25
A carcinoid tumor is derived from what type of cell? Where do most carcinoid tumors arise?
neuroendocrine
midgut
26
What neurotransmitter do carcinoid tumors release? What amino acid is this neurotransmitter derived from?
serotonin
serotonin derived from Trp
27
Deficiency of what vitamin can lead to adrenal insufficiency?
B5
28
What three type of reactions is vitamin B6 used for?
transamination
decarboxylation
glycogen phosphorylase
29
Name a common food with a large supply of avidin? What B vitamin can this cause a decrease i?
raw egg whites
B7 (biotin)
30
Biotin is necessary for what type of reactions?
carboxylation
31
What is the primary symptom of folate deficiency?
macrocytic, megaloblastic anemia
32
What amino acid metabolism rxn are folate/B12 necessary for?
homocysteine to methionine
33
What three drugs can cause B9 deficiency?
phenytoin, methotrexate, sulfonamides
34
In a vitamin B9 deficiency, are methylmalonic acid levels normal?
yes
35
In a vitamin B12 deficiency, are methylmalonic acid levels normal?
higher
36
Other than homocysteine to cysteine, what other rxn is B12 required for?
methylmalonyl-CoA to succinyl-CoA
37
Deficiency of what B vitamin can cause subacute combined syndrome?
B12
38
What three tracts are destroyed durig subacute combined syndrome?
DCML
lateral corticospinal
spinocerebellar
39
What helminth can cause B12 deficiency? What is another name for this helminth?
Diphyllobothrium latum
fish tapeworm
40
What enzyme of adrenergic synthesis is dependent on Vitamin C?
dopamine β-hydroxylase
41
What are the two names for vitamin D absorbed from milk?
vitamin D3
cholecalciferol
42
In what layer of the epidermis does vitamin D conversion take place?
stratum basale
43
What is the storage form of D3?
25OH-D3
44
What is the active form of D3? What is another name for this?
1,25OH-D3
calcitriol
45
What type of cell can aberrantly activate D3? When is this seen?
epitheliod macrophage/histiocyte
sarcoidosis/granuloma
46
What is an acanthocyte?
spiked erythrocyte
47
What vitamin protects RBCs from free-radical damage?
Vitamin E
48
A decrease of what vitamin may present similar neurological symptoms to B12 deficiency but without what other three symptoms?
1. megaloblastic anemia
2. hypersegmented neutrophils
3. no increase in methyl-malonic acid
49
What vitamin can act as an anticoagulant?
Vitamin E
50
Other than II, VII, IX and X, what clotting factors are dependent on vitamin K?
Protein C and Protein S
51
What enzyme that processes alcohol is located in the cytosol?
alcohol dehydrogenase
52
What enzyme that processes alcohol is located in the mitochondria? What is the product of this enzyme?
acetylaldehyde dehydrogenase
acetate
53
What is the limiting reagent for alcohol metabolism?
NAD+
54
What molecule does FA synthesis begin with?
glycerol-3-phosphate
55
During heavy alcohol consumption, what does OAA get converted into? What does this prevent?
malate
gluconeogenesis
56
During heavy alcohol consumption, what does pyruvate get converted into? What is the result of this?
lactic acid
lactic acidosis
57
During heavy alcohol consumption, what does glyceraldehyde-3-phosphate get converted into? What is the result of this?
glycerol-3-phosphate
fatty acid synthesis
58
During excess alcohol consumption, why does ketogenesis take place?
acetyl-CoA is shunted into ketogenic pathways rather than TCA
59
What drug inhibits alcohol dehydrogenase?
Fomepizole
60
What drug inhibits acetylaldehyde dehydrogenase?
Disulfarim
61
Why does a child with Kwashiorkor develop fatty liver?
decrease apolipoprotein synthesis
62
What is marasmus?
muscle wasting
63
Where in the cell does β-oxidation occur?
mitochondria
64
Where in the cell does glycolysis occur?
cytosol
65
Where in the cell does fatty acid synthesis occur?
cytosol
66
Where in the cell does acetyl-CoA synthesis occur?
mitochondria
67
Where in the cell does the TCA occur?
mitochondria
68
Where in the cell does oxidative phosphorylation occur?
mitochondria
69
Where does HMP Shunt (PPP) occur in cells?
cytosol
70
What is the acronym to remember which metabolic processes occur in both the mitochondria and cytosol? What are they?
HUG
Heme synthesis, Urea cycle and Gluconeogenesis
71
What is the rate limiting enzyme of glycolysis? What is the product?
PFK1
F16bP
72
What molecule activates PFK1?
F26bP
73
What two compounds inhibit PFK1?
ATP and citrate
74
What is the rate limiting enzyme of GNG? What is the product?
F16bPase
F6P
75
What are the two activators of F16bPase?
ATP and acetyl-CoA
76
What are the two negative regulators of F16bPase?
AMP and F26bP
77
What is the rate limiting enzyme of the TCA cycle? What is the main activator?
isocitrate dehydrogenase
AMP
78
What is the rate limiting enzyme of glycogenesis? What are the two hormone activators of glycogenesis?
glycogen synthase
insulin and cortisol
79
What are the two negative hormone regulators of glycogenesis?
epinephrine and glucagon
80
What is the rate limiting enzyme of glycogenolysis? What are the two hormone activators of glycogen phosphorylase?
glycogen phosphorylase
epinephrine and glucagon
81
What is the negative hormone regulator of glycogenolysis?
insulin
82
What is the main enzyme of the HMP Shunt (PPP)?
G6PD
83
What is the main positive regulator of HMP Shunt (PPP) pathway?
positive = NADP+
negative = NADPH
84
What is the rate limiting enzyme of pyrimidine synthesis?
carbamoyl phosphate synthetase II
85
What two organs are involved in the malate aspartate shutle?
heart and liver
86
What does CoA carry?
acyl groups
87
What does biotin carry?
CO2
88
What does THF carry?
one-carbon groups
89
What does SAM carry?
methyl group
90
What does TPP carry?
aldehydes
91
Is NAD+ used in catabolic or anabolic processes?
catabolic
92
Is NADP+ used in catabolic or anabolic processes?
anabolic
93
What reducing equivalent is used in the respiratory burst?
NADPH
94
What reducing equivalent is used in the cytochrome p450 system?
NADPH
95
Which has higher affinity, glucokinase or hexokinase?
hexokinase
96
What two locations is hexokinase not located?
liver and β-cells of pancreas
97
Where is glucokinase located?
liver and β-cells of pancreas
98
Which has a higher Vmax, hexokinase or glucokinase?
glucokinase
99
Is hexokinase or glucokinase induced by insulin?
glucokinase
100
Which is feedback inhibited by G6P, hexokinase or glucokinase?
hexokinase
101
Is glucokinase or kexokinase associated with MODY?
glucokinase
102
How many pyruvate molecules are produced per glucose during glycolysis?
two
103
How many ATP molecules are produced per glucose during glycolysis?
two
104
How many NADH molecules are produced per glucose during glycolysis?
two
105
What are the two enzymes of glycolysis that produce ATP?
pyruvate kinase and phosphoglycerate kinase
106
Does glucagon increase or decrease cAMP/PKA?
increases
107
Does insulin increase or decrease cAMP/PKA?
decrease
108
Do cAMP/PKA activate or inhibit PFKII?
inhibit
109
Does F26bP inhibit or activate PFK1? Does this lead to an increase in glycolysis or GNG?
activate
glycolysis
110
Does F26bP inhibit or activate Fructose bisPhosphatase? Does this lead to an increase in glycolysis or GNG?
inhibit
GNG
111
What are the two energy equivalents produced by the PDH complex?
Acetyl-CoA and NADH
112
PDH is similar to what other complex? What is the product of this pathway?
α-ketoglutarate dehydrogenase
succinyl-CoA
113
What co-factor of the PDH does arsenic inhibit? What are the three symptoms?
Lipoic acid
vomiting, rice-water stools, garlic breath
114
What are the five co-factors of the PDH?
1. Pyrophosphate (thiamine, B1)
2. FAD
3. NAD
4. CoA (B5, pantothenic acid)
5. Lipoic acid
115
If the PDH is non-functional, what two molecules does pyruvate get shunted into? What enzymes?
lactate (via LDH)
alanine (ALT)
116
What is the dietary modification for PDH Deficiency?
ketogenic diet
117
What is Cori cycle? What is produced? Where? What molecule gets transported?
glucose
liver
lactate
118
Does fermentation produce NAD+ or NADH?
NAD+
119
What rxn does pyruvate carboxylase catalyze? What B vitamin is involved?
pyruvate into OAA
biotin
120
What reducing equivalent does the malate-aspartate shuttle bring into the mitochondria?
NADH
121
What reducing equivalent does the glycerol-3-phosphate shuttle bring into the mitochondria?
FADH2
122
What is complex I of the ETC? What drug inhibits complex I?
NADH Dehydrogenase
Rotenone
123
What is complex II of the ETC? What reducing equivalet gets oxidized?
Succinate Dehydrogenase
FADH2
124
What is another name for complex III? What drug inhibits complex III?
Cyt-C Reductase
Antimycin A
125
What is another name for complex IV? What drug inhibits complex IV?
Cyt-C Oxidase
CO and Cyanide
126
What drug inhibits complex V?
Oligomycin
127
Other than 2,4-DNP, what other drug can cause electron uncoupling of the ETC?
aspirin
128
What is the mnenomic to remember the regulated steps of GNG?
Pathway Produces Fresh Glucose
129
What are the four regulated enzymes of GNG?
1. Pyruvate carboxylase
2. PEPCK
3. F16bPase
4. G6Pase
130
What rxn is catalyzed by PEPCK? WHat is used as energy to drive this reaction?
OAA to PEP
GTP
131
What two metabolic pathways are generated to produce NAD+ when a patient is consuming alcohol?
pyruvate to lactate
OAA to Malate
132
Odd chain fatty acids enter metabolism via what molecule? Odd chain fatty acids can enter the TCA via what molecule?
propionyl-CoA
succinyl-CoA
133
Can acetyl-CoA enter GNG pathways?
no
134
What are the two products of G6P Dehydrogenase?
ribulose-5-phosphate
NADPH
135
What vitamin cofactor do transketolases require?
B1
136
What are the three products of the non-oxidative phase of the HMP shunt?
G3P
F6P
ribose-5-phosphate
137
The respiratory burst requires what enzyme? What disease presents in the absence of this disease?
NADPH oxidase
chronic granulomatous disease
138
NADPH oxidase catalyzes what reaction in the respiratory burst?
O2 to superoxide
139
What rxn is catalyzed by superoxide dismutase?
superoxide to hydrogen peroxide
140
What is the substrate for myeloperoxidase? What is the product of myeloperoxidase?
H2O2
HOCl
141
Glutathione peroxidase destroys what molecule? What cofactor is required?
H2O2
selenium
142
Glutathione reductase catalyzes what rxn? What molecule is used as a source of energy for this reaction? What co-factor is required?
GSSG to GSH
NADPH
selenium
143
Which bacteria are patients with CGD at an increased risk for acquiring? Which fungus are patients with CGD at an increased risk for acquiring?
S. aureus
Aspergillus
144
Which bacteria possess pyocyanin? What is produced?
P. aeruginosa
ROS
145
What two locations is lactoferrin found?
secretory fluids and neutrophils
146
What is the sugar byproduct of G6P dehydrogenase?
6-phosphogluconate
147
In what cell type are Heinz bodies found? What are Heinz bodies composed of?
RBCs
oxidized hemoglobin
148
What is removed from 'Bite Cells'?
Heinz bodies
149
In what two locations does fructose appear in Essential Fructosuria? What enzyme is absent? What is the mode of inheritance for fructosuria?
blood and urine
Fructokinase
autosomal recessive
150
What enzyme is absent in Fructose Intolerance? What product accumulates?
Aldolase B
Fructose-1-Phosphate
151
What are the two products of normal Aldolase B functioning?
Glyceraldehyde
DHAP
152
What enzyme converts glyceraldehyde into GA3P?
Triose Kinase
153
What two metabolic pathways are inhibited during Fructose Intolerance?
Glycogenolysis and Gluconeogenesis
154
What two sugars make up sucrose? Comsumption of of can lead to the symptoms of Fructose Intolerance?
glucose and fructose
fruit/juice/honey
155
What rxn does galactokinase catalyze?
galactose to galactose-1-phosphate
156
What product accumulates in Galactokinase Deficiency?
galactitol
157
What is the mode of inheritance of galactokinase deficiency?
autosomal recessive
158
How does Galactokinase Deficiency present in infants?
infantile cataracts
159
What enzyme is absent in Galactosemia?
Galactose-1-Uridyltransferase
160
What rxn does Galactose-1-Uridyltransferase catalyze?
galactose-1-phosphate to glucose-1-phosphate
161
What is the mode of inheritance of Galactosemia?
autosomal recessive
162
What toxic product accumulates during Galactosemia?
galactitol
163
Where does galactitol accumulate in the body during Galactosemia?
lens of eye
164
What two sugars compose lactose?
glucose and galactose
165
What is the mnenomic to remember the enzymes involved with fructose intolerance and galactosemia?
FAB GUT
166
E. coli sepsis in neonates can be indicative of what disease?
Galactosemia
167
What enzyme converts glucose into sorbitol? What reducing equivalent is required?
aldose reductase
NADPH
168
What enzyme converts sorbitol into fructose? What is required for an energy equivalent?
sorbitol dehydrogenase
NAD+
169
In a patient with hyperglycemia, deficiency of what enzyme can lead to sorbitol causing osmotic damage?
sorbitol dehydrogenase
170
What three tissues lack sorbitol dehydrogenase? What tissue primarily only has aldose reductase?
Schwann cells, retina and kidney
Lens
171
During a lactase deficiency, will the stool have an increased or decreased pH?
decreased pH
172
During a lactase deficiency, will the breath have a higher or lower hydrogen content?
higher
173
What amino acids are both ketogenic and glucogenic?
Trp, Phe, Thr and Iso
174
What are the two main amino acids of histones?
Arg and Lys
175
What is the required cofactor for CPS I?
N-acetylglutamate
176
Carbamoyl phosphate combines with what product? What enzyme acts on it? What product is generated?
ornithine
OTCase
citrulline
177
In the urea cycle, what enzyme acts on citrulline? What molecules combines with citrulline? What product is formed?
Arginosuccinate Synthetase
aspartate
Arginosuccinate
178
In the urea cycle, what enzyme works on arginosuccinate?
arginosuccinase
179
In the urea cycle, what is the product of arginosuccinase? What is the by-product?
Arginine
Fumarate
180
In the urea cycle, what enzyme degrades arginine? What is the product of this enzyme? What is the byproduct of this enzyme?
Arginase
ornithine
urea
181
What two products contribute to the nitrogens of urea?
NH3 and aspartate
182
In muscle, amino acids get degraded to what for energy?
their corresponding α-ketoacid
183
An amine is added from α-ketoglutarate to produce what product?
glutamate
184
What molecule does glutamate give an amine group to? What is created?
pyruvate
alanine
185
In the liver, what compound does alanine give an amine to? What two products are formed?
α-ketoglutarate
glutamate and pyruvate
186
What TCA cycle intermediate is depleted during hyperammonemia?
α-ketoglutarate
187
What two drugs are given to treat urea cycle disorders?
benzoate and phenylbutyrate
188
What is the MOA of benzoate and phenylbutyrate?
bind amino acids for excretion
189
What anti-convulsant can cause hyperammonemia?>
valproic acid
190
What drugs acidifies the GI tract to treat hyperammonemia?
lactulose
191
N-acetylglutamate is a required cofactor for what enyme?
CPS I
192
An increase in what product would be indicative of an N-acetylglutamate deficiency compared to a CPS-1 deficiency?
Ornithine
193
What is the mode of inheritance for OTCase?
X-linked recessive
194
In OTCase deficiency, what metabolic intermediate accumulates? What is it converted to?
carbamoyl phosphate
orotic acid
195
What enzyme is usually deficient in pt's with orotic aciduria? What disease can orotic aciduria be indicative of?
UMP synthase
megaloblastic anemia
196
Can megaloblastic anemia caused by UMP Synthase deficiency be treated with B12 or Folate?
no
197
What rxn does Thymidylate Synthase catalyze?
dUMP to dTMP
198
What folate chemistry takes place during Thymidylate Synthase action?
N5N10-THF to DHF
199
What drug inhibits Thymidylate Synthase?
5-FU
200
What drug inhibits ribonucleotide reductase?
hydroxyurea
201
What compound serves as the precursor to melanin synthesis?
Dopa
202
What is the cofactor required for Dopamine β-Hydroxylase?
Vitamin C
203
What is the amino acid precursor for niacin? What is the necessary cofactor for niacin synthesis?
Tryptophan
B6
204
What is the amino acid precursor for serotonin?
Trp
205
WHat is the amino acid precursor for melatonin? What product is melatonin synthesized from?
Trp
Serotonin
206
What cofactor is required for heme synthesis?
B6
207
What are the two precursors for heme synthesis?
glycine and succinyl-CoA
208
What amino acid is GABA synthesized from? What vitamin cofactor is required for its synthesis?
glutamate
B6
209
What cofactor is required for DOPA decarboxylase?
B6
210
What amino acid is glutathione synthesized from?
glutamate
211
What three products is Arginine the precursor for?
creatine, NO and urea
212
What type of amino acid and type of reaction is BH4/THB required for?
aromatic amino acid
hydroxylase
213
What cofactor is required for tyrosine hydroxylase?
THB/BH4
214
What amino acid is Homogentisic acid derived from?
Tyrosine
215
What enzyme is deficienct in alkaptonuria?
homogentistate oxidase
216
What enzyme is deficient in PKU?
phenylalanine hydroxylase
217
What enzyme is deficient during albinism?
tyrosinase
218
What enzyme does carbidopa inhibit? What neurotransmitter is decreased in its degradation?
DOPA decarboxylase
levodopa
219
What acts as the methyl donor for PNMT? What hormone activates this methyl donor?
SAM
cortisol
220
What is the metabolic breakdown product of dopamine?
homovanillic acid
221
What is the breakdown product of norepinephrine?
Normetanephrine
222
What is normetanephrine broken down into?
Vanillylmandelic acid
223
What is the breakdown product of epinephrine?
metanepinephrine
224
Deficency of what cofactor or enzyme could lead to PKU?
Phenylalanine Hydroxylase
THB/BH4
225
Deficiency of what causes malignant PKU?
THB/BH4
226
Tyrosine is synthesized from what amino acid precursor?
Phe
227
What amino acid becomes essential during PKU?
Tyr
228
What are the three phenyl-acids found in the urine of a patient with uncontrolled PKU?
phenylacetate, phenyllactate, phenylpyruvate
229
What is the mode of inheritance of PKU?
autosomal recessive
230
During PKU, what is the end product of Tyr/Phe metabolism?
fumarate
231
What metabolic product will be absent during alkaptonuria?
maleylacetoacetic acid
232
What precursor does homocysteine methyltransferase work on? What is the necessary cofactor? What is the product of the rxn?
Homocysteine
B12
methionine
233
What is the compound cystathionine synthase acts on? Cofactor? Amino acid required?
homocysteine
B6
Serine
234
B12 is necessary for what two enzymes?
1. homocysteine methyltransferase
| 2. Methylmalonyl-CoA mutase
235
What is the acronym to remember cystinuria?
COLA
236
What does COLA stand for?
Cysteine
Ornithine
Lysine
Arginine
237
What type of transporter is absent during cystinuria? What are the two locations of this transporter?
amino acid transporter
PCT and intestine
238
What is the mode of inheritance for cystinuria?
autosomal recessive
239
What is the diagnostic test for cystinuria?
cyanide-nitroprusside
240
What two drugs are used to treat cystinuria?
potassium citrate and acetozolamide
241
When treating cystinuria, does one try to alkalize or acidify the urine?
alkalize
242
MSUD is a result of the decreased breakdown of what amino acids?
leucine, isoleucine and valine
243
What enzyme can be defective that would produce MSUD?
α-ketoacid dehydrogenase
244
What co-factor could produce a condition that would mimmic MSUD?
B1
245
What are the three activtors of glycogen phosphorylase?
PKA, Ca2+/CaM and Ca2+
246
What are the effects of PKA on Glycogen Synthase?
Inhibitory
247
What type of receptor is the insulin receptor?
tyrosine kinase
248
What are the effects of insulin on Glycogen Synthase?
activate
249
Do glycogen branches have α(1-4) or α(1-6) bonds?
α(1-6)
250
Do glycogen chains have α(1-4) or α(1-6) bonds?
α(1-4)
251
What is the product of Glycogen Phosphorylase?
G1P
252
What enzyme converts G1P to G6P?
phosphoglucomutase
253
In what form is glucose attached to glycogen?
UDP-glucose
254
What enzyme synthesizes UDP-glucose from G1P?
UDP-glucose pyrophosphorylase
255
What type of GSD is von Gierke Disease? What enzyme is absent?
Type I
G6Pase
256
What type of GSD is Pompe Disease? What enzyme is absent? What organ is destroyed by Pompe Disease?
Type II
α(1-4)-glucosidase
heart
257
What type of GSD is Cori Disease? What enzyme is absent?
Type III
Debranching Enzyme
258
What type of GSD is McArdle? What enzyme is absent? What is the most common tissue affected?
Type V
Glycogen Phosphorylase
Muscle
259
What are the three symptoms of McArdle Disease?
1. Myoglobinuria
2. Painful cramps
3. Arrhythmia
260
What is the absent enzyme in Fabry Disease? What is the mode of inheritance?
α-galactosidase
X-linked Recessive
261
Which LSD presents with Peripheral neuropathy and angiokeratomas?
Fabry
262
What product accumulates during Fabry disease?
Ceramide Trihexoside
263
What enzyme is deficient in Gaucher's Disease? What product accumulates?
Glucocerebrosidase
Glucocerebroside
264
What is the key phrase regarding Gaucher's Disease?
crumpled tissue paper
265
Which LSD can present with pancytopenia?
Gaucher
266
Which LSD can present with aseptic necrosis of the femur?
Gaucher Disease
267
What enzyme is deficient in Niemann Pick? What product accumulates?
Sphingomyelinase
Sphingomyelin
268
What two disease present with a 'Cherry Red Spot' on the macula?
Tay-Sachs
Niemann-Pick
269
What enzyme is deficient in Niemann-Pick? What product accumulates?
Hexosaminidase A
GM2 gangliosides
270
What enzyme is deficient in Krabbe disease?
Galactoscerebrosidase
271
Krabbe disease leads to the inability to produce what structure?
myelin
272
Globoid cells are found in what LSD?
Krabbe disease
273
What enzyme is deficient in Metachromatic Leukodystrophy? What accumulates?
Arylsulfatase
cerebroside sulfate
274
What two products accumulate during Krabbe disease?
galactosecerebroside
psychosine
275
What enzyme is responsible for the breakdown of sulftides? What disease?
Arylsulfatase
Metachromatic leukodystrophy
276
What enzyme is deficient in Hurler Syndrome?
α-Iduronidase
277
What enzyme is deficient in Hunter Syndrome?
Iduronate Sulfatase
278
Ashkenazi Jews have an increased risk of what two LSDs?
Tay-Sachs and Niemann-Pick
279
Hypoketotic hypoglycemia is indicative of what disease?
Carnitine Deficiency
280
What rxn does acetyl-CoA carboxylase?
Acetyl-CoA to Malonyl-CoA
281
What are the two main ketone bodies?
acetoacetate and β-hydroxybutyrate
282
What ketone body does a urine test not detect?
β-hydroxybutyrate
283
What rxn does PEPCK catalyze?
OAA into PEP
284
What is the product of HMG-CoA Reductase?
Mevalonate
285
What reaction in catalyzed by LCAT?
esterification of free cholesterol
286
What cell type contains lipoprotein lipase?
vascular endothelial cells
287
In what two locations is lipoprotein lipase found?
VLDL and chylomicrons
288
What type of lipoprotein is hepatic lipase found?
IDL
289
What tissue type is HSL found?
adipose
290
What is the function of CETP?
transfer of cholesterol esters and lipids between lipoproteins
291
What is the function of ApoE?
remnant uptake
292
Which lipoprotein actiates LCAT?
A-I
293
What is the function of ApoC-II?
lipoprotein lipase cofactor
294
What is the function of ApoB48?
chylomicron secretion
295
What is the function of ApoB100?
binds LDL receptor
296
What cell type secretes chylomicrons?
intestinal epithelial cells
297
What two diseases can lead to a decrease in the absorption of A, D, E and K?
CF and celiac sprue
298
What vitamin prevents squamous metaplasia?
A
299
What two diseases are treated with vitamin A?
measles and AML
300
Deficiency of what vitamin can lead to alopecia?
A
301
What vitamin can be a teratogen?
A
302
In what biochemical pathway are the Transketolase enzymes used?
HMP Shunt/PPP
303
What vasoactive metabolite causes the flushig symptoms of carcinoid syndrome?
bradykinin
304
What is the degradation product of serotonin in the urine?
5-HIAA
305
What is the 2nd most common place for a carcinoid tumor to develop?
respiratory
306
What cell type do carcinoid tumors arise from?
enterochromaffin
307
What are the three symptoms of niacin deficiency?
dementia, dermatitis, diarrhea
308
Which B vitamin can cause hyperglycemia?
niacin
309
Other than neurotransmitters, what four products require B6 for synthesis?
cystathione, heme, histamine and niacin
310
What five neurotransmitters require B6 for synthesis?
serotonin, epi, nor-e, dopamine, GABA
311
Deficiency of what vitamin can cause sideroblastic anemia?
B6
312
What is the end-product of odd-chain fatty acid degradation?
propionyl-CoA
313
What three carboxylation reactions requite biotin?
1. Pyruvate carboxylase
2. Acetyl-CoA Carboxylase
3. Propionyl-CoA carboxylase
314
What is the product of propionyl-CoA Carboxylase?
methylmalonyl-CoA
315
What is methylmalonyl-CoA converted into? What co-factor is required for this rxn?
succinyl-CoA
B12
316
What amino acid would be increased with a THF/B12 deficiency?
Homocysteine
317
What would cause an increase in methylmalonic acid, B12 or folate?
B12
318
What two rxn's is B12 required for a cofactor?
1. Homocysteine to methionine
| 2. methylmalonic acid to succinyl-CoA
319
Other than B12, deficiency of what vitamin can cause Subacute Combied Degeneration of the spinal cord?
vitamin E
320
Regarding collagen synthesis, vitamin C is required for what reaction? What amino acids?
hydroxylation
proline and lysine
321
What oxidation state does ascorbic acid keep iron from entering?
Fe3+
322
What type of kidney stones can excess Vitamin C cause?
calcium oxalate
323
What is another name for vitamin D2?
ergocalciferol
324
What ions does Vitamin D promote the reabsorption of?
calcium and phosphate
325
What vitamin can interfere with the effects of warfarin? Increase or decrease effects of warfarin?
E
increase
326
What neurological condition can vitamin E mimmic?
Subacute combined syndrome
327
What type of post-translational modification is promoted by Vitamin K in the coagulation cascade? What amino acid?
carboxylation
glutamic acid
328
What does thyroxine do to cholesterol levels?
increases them
329
What rxn does Galactose-1-phosphate uridyltransferase catalyze? In what disease is the activity of this enzyme severly effected?
Galactose-1-phosphate into glucose-1-phosphate
Severe Galactosemia
330
What rxn does Transketolase catalyze?
ribulose-5-phosphate into F6P
331
Where is aldolase B located? Aldolase A?
B = liver
A = muscle
332
What rxn does pyruvate kinase catalyze?
PEP into pyruvate
333
What rxn does citrate synthase catalyze?
OAA and Acetyl-CoA into citrate
334
What rxn is catalyzed by phosphoglycerate kinase? What is given off?
13bPG to 3-phosphoglycerate
ATP
335
What does insulin do to cAMP/PKA levels?
inhibit
336
What does glucagon do to cAMP/PKA levels?
increases
337
What does cAMP/PKA do to PFK2 activity? What is the product of PFK2?
increase
F26bP
338
What does F26bP do to PFK1 activity?
activates PFK1
inhibits F26bPase
339
What is the essential cofactor for Myeloperoxidase?
heme
340
What two forms of fructose can Aldolase B work on?
1. F1P
| 2. F16bP
341
What food can exacerbate a G6PD deficiency?
fava beans
342
What three drugs can exacerbate a G6PD deficiency?
1. sulfonamides
2. primaquine
3. TB drugs
343
What rxn is catalyzed by Sorbitol Dehydrogenase?
sorbitol to fructose
344
Amino acids combine with αKG to form what?
glutamate
345
What donates an amine group to ALT?
glutamate
346
Orotic aciduria is caused by a defect in what enzyme?
UMP synthase
347
What cofactor is required for phenylalanine hydroxylase?
THB
348
What cofactor is required for tyrosine hydroxylase?
THB
349
What cofactor is necessary to convert Histidine to Histamine?
B6
350
What amino acid is used to synthesize NO? WHat cofactorr?
Arginine
THB
351
Vanillylmandelic acid is the breakdown product of what two products?
Metanephrine
Normetanephrine
352
Homocystinuria can be caused by a deficiency in what two enzymes?
1. Homocysteine Methyltransferase (Methionine Synthase)
| 2. Cystathionine Synthase
353
MSUD can be caused by a decrease in what B vitamin?
B1
354
Optic atrophy is indicative of what lysosomal storage disease?
Krabbe
355
What disease features hepatosplenomegaly, Niemann-Pick or Tay-Sachs?
Niemann-Pick
356
What disease has corneal clouding, Hunter or Hurler?
Hurler
357
Is polyneuritis Dry or Wet BeriBeri?
dry
358
Which mediator is responsible for the flushing of niacin?
prostaglandins
359
Which hormone can induce a niacin deficiency?
oral contraceptives
360
What enzyme induces dissociation of R-Binder from Intrinsic Factor?
pancreatic protease
361
Which four amino acids can be converted into Propionyl-CoA?
Valine
Threonine
Methionine
Isoleucine
362
Which vitamin can increase the risk of iron toxicity?
Vitamin C
363
A lack of what vitamin can present with a hemolytic anemia?
E
364
A lack of what metal can produce hypogonadism?
zinc
365
A deficiency of what metal may predispose to alcoholic cirrhosis?
zinc
366
A deficiency of what metal may predispose to anosmia?
zinc
367
A deficiency of what metal may lead to a decrease in adult hair?
zinc
368
Which TCA cycle intermediate gets depleted during alcohol consumption?
OAA
369
Kwashiorkor is caused by a deficiency of what macro nutrient?
protein
370
Why do Kwashiorkor have a fatty liver?
decrease apolipoprotein synthesis
371
Marasmus is caused by a deficiency of what macro nutrient?
calories
372
Which GLUT transporter is in neurons?
GLUT3
373
Does insulin produce a kinase or phosphatase reaction?
phosphatase
374
What enzyme is affected by Maturity Onset Diabetes of the Young?
Glucokinase
375
How many ATPs are produced during aerobic metabolism?
32
376
How many ATPs are produced during anaerobic metabolism?
two
377
Which two enzymes of the non-oxidative phase of the HMP shunt is thiamine used for?
Transketolase
Phosphopentose isomerase
378
Name the four locations of the HMP Shunt?
lactating mammary gland
adrenal cortex
Liver
RBCs
379
Name an enzyme that contains heme
Myeloperoxidase
380
Will glucose be found in the urine during Fructose Intolerance? What will be found in the urine?
no
reducing sugars
381
What two sugars does a person with Fructose Intolerance need to avoid in their diet?
fructose and sucrose
382
Galactosemia may develop by an infant failing to do whatt two things?
track objects
social smile
383
Which enzyme converts Galactose into Galactitol?
Aldose Reductase
384
Which enzyme re-generates the co-factor needed during Galactosemia?
4-Epimerase
385
What rxn is catalyzed by phosphoglucomutase?
G6P to G1P
386
Which two amino acids are required during times of growth?
arginine and histidine
387
Is homogentisic acid toxic to cartilage?
yes
388
What is the end product of the degradation of homogentisic acid degradation?
Maleylacetoacetate
389
Which direction do the lenses go during Homocystinuria?
down and in
390
What shape are cysteine stones?
hexagonal
391
Which has intellectual disabilty, homocystinuria or marfan?
homocystinuria
392
Which GSD has severe fasting hypoglycemia?
Von Gierke
393
Which GSD can present with lactic acidosis?
Von Gierke
394
Which GSD can present with gout?
Von gierke
395
What two sugars should be avoided in Von Gierke?
fructose and galactose
396
Which GSD has increased glycogen in the liver?
Von Gierke
397
Which GSD can produce arrhythmias?
McArdle
398
What has hepatosplenomegaly, Tay Sachs or Niemann-Pick?
Niemann-Pick
399
Which disease is XLR, Hurler or Hunter?
Hunter
400
Which TCA intermediate is depleted during DKA?
OAA
401
Do even chain or odd chain FAs contribute to GNG?
odd
402
At what day of starvation does adipose tissue begin to supply ketone bodies?
three
403
Can RBCs use ketones? Why?
no
no mitochondria
404
What is the function of LCAT?
to convert cholesterol to cholesterol ester on lipoproteins
405
LPL releases what molecule? From what two locations?
free fatty acids
VLDL and chylomicrons
406
Which hormone is responsible for releasing FFAs from adipose tissue?
HSL
407
What is the function of CETP?
transfer of cholesterol between HDL and other lipoproteins
408
Which apolipoprotein is ApoE not on?
LDL
409
Which two apolipoproteins is ApoA found on?
chylomicron and HDL
410
What is the function of VLDL?
deliver hepatic triglycerides
411
What is the function of LDL?
deliver hepatic cholesterol
412
Which apoprotein does alcohol increase the synthesis of?
ApoE
413
What dyslipidemia is Type One?
Hyperchylomicronemia
414
What is the mode of inheritance for Hyperchylomicronemia?
autosomal recessive
415
What two components could be missing during Hyperchylomicronemia?
LPL
C-Two
416
What dyslipidemia is Type Two? Mode of inheritance?
hypercholesterolemia
AD
417
What dyslipidemia is Type Four? Mode of inheritance?
hypertriglyceridemia
AD
