Biochemistry Metabolism Flashcards
1
Q
What is the rate determining step of Glycolysis?
A
Fructose-6-P –> Fructose 1,6-BP via PFK-1
2
Q
Which cofactors positively regulate glycolysis?
A
AMP, fructose 2,6 BP
3
Q
Which cofactors negatively regulate glycolysis?
A
ATP, citrate
4
Q
Where does glycolysis occur and what is the end product?
A
Cytosol, pyruvate
5
Q
What happens with pyruvate after glycolysis? (2 options)
A
Aerobic metabolism via TCA cycle and Ox-pphos in mitochondria
Anaerobic metabolism via Lactate dehydrogenase to lactate
6
Q
What is the rate limiting step in gluconeogenesis with which enzyme?
A
Fructose 1,6-BP –> Fructose 6 P via Fructose 1,6- bisphosphatase
7
Q
Negative regulators of gluconeogenesis
A
AMP, fructose-2,6,BP
8
Q
What is the rate determining step and enzyme for TCA cycle?
A
Isocitrate –> alpha-ketoglutarate via Isocitrate dehydrogenase
9
Q
What is the positive regulator of TCA cycle?
A
ADP
10
Q
What negatively regulates the TCA cycle?
A
ATP, NADH
11
Q
What is the rate-determining enzyme for glycogenesis
A
Glycogen synthase
12
Q
What positively regulates glycogenesis?
A
Insulin, G6P and cortisol
13
Q
What negatively regulates glycogenesis
A
Epinephrine, glucagon
14
Q
What is the rate determining enzyme for Glycogenolysis
A
Glycogen phosphorylase
15
Q
What positively regulates glycogenolysis
A
epinephrine, glucagon, AMP
16
Q
What negatively regulates glycogenolysis
A
G6P, insulin, ATP
17
Q
What is the function of the HMP shunt?
A
Produce NADPH
18
Q
What is the rate determining enzyme of HMP shunt?
A
G6PD
19
Q
What negatively regulates HMP shunt?
A
NADPH
20
Q
What is the rate determining enzyme for de novo pyrmidine synthesis
A
Carbamoyl phosphate synthetase II
21
Q
What is the rate determining enzyme of de novo purine syntesis
A
PRPP amidotransferase
22
Q
What is the rate determining enzyme for urea cycle?
A
Carbamoyl phosphate synthetase I
23
Q
What positively regulates urea cycle?
A
N-acetylglutamate and proteins
24
Q
What negatively regulates fatty acid oxidation?
A
Malonyl-CoA
25
What is the rate limiting enzyme of fatty acid oxidation?
Carnitine acyltransferase I
26
Which two products does HMG-CoA ultimately make?
Cholesterol or ketones (beta-hydroxybutyrate)
27
Which step is pyruvate dehydrogenase involved in and which cofactor does it use?
Pyruvate --> Acetyl CoA; Thiamine
28
Which step is pyruvate kinase involved in?
PEP--> pyruvate
29
Which step is isocitrate dehydrogenase involved in?
Isocitrate --> alpha-KG
30
Which step is alpha-KG dehydrogenase involved in and what cofactor does it use?
alpha-KG--> Succinyl CoA; Thiamine
31
How much ATP does aerobic metabolism produce for heart and lungs using which shuttle?
32 net via malate-aspartate
32
How much ATP does aerobic metabolism produce for muscle using which shuttle?
30 net via G3P shuttle
33
What does arsenic poison due?
Causes glycolysis to produce 0 ATP
34
What 4 processes is NADPH used in?
Anabolic processes
Respiratory burst
Cytochrome P450 system
Glutathione reductase
35
Which processes is NAD+ usually used in?
Catabolic processes
36
What is the first committed step in glycolysis?
Glucose --> G6P (irreversible)
37
Which two enzymes are involved in the conversion of glucose to G6P
Hexokinase (most tissues except liver and pancreas) and Glucokinase (pancreas and liver)
38
Which enzyme is expressed at low glucose concentrations?
Hexokinase
39
Does hexokinase have a high or low Km?
low (high affinity for glucose)
40
Does hexokinase have a high or low Vm?
low (lower capacity)
41
Which enzyme mutation causes maturity-onset diabetes of the young?
Glucokinase
42
Which kinase responds to insulin levels?
Glucokinase
43
Which enzyme is inhibited by G6P?
Hexokinase
44
Which enzyme reactions produce ATP in glycolysis?
Phosphoglycerate kinase and pyruvate kinase
45
How does glucagon influence cAMP levels, FBPase-2 and PFK-2 levels?
Increase cAMP, increase FBPase-2 and decrease PFK-2
46
How does phosphorylation affect FBP-2ase and PFK-2
Activates FBP-ase2 and inactivates PFK-2
47
How does insulin influence cAMP, FBP-2ase and PFK-2 levels?
Decrease cAMP, decrease FBP-ase2 and increase PFK-2
48
What is the mnemonic for the 5 cofactors needed for the pyruvate dehydrogenase complex?
Tender Loving Care for Nancy
| Thiamine (B1), Lipoic Acid, CoA (B5), FAD (B2), NAD (B3)
49
What activates PDH complex and alpha-KG complex?
increase NAD+/NADH, ADP, and Ca++
50
How does arsenic poisoning affect TCA?
Inhibits Lipoic acid so a-KG DH and PDH complexes cannot function (TCA cycle inhibited)
51
What is the clinical presentation of Arsenic poisoning?
Vomiting, rice-water stools, garlic breath
52
How Pyruvate dehyrdogenase deficiency inherited?
X-linked
53
What are the clinical findings of PDH deficiency?
neurologic defects, lactic acidosis (pyruvate gets shunted to lactate buildup bc cannot enter TCA) and increase serine alanine in infancy
54
What is the treatment for PDH complex deficiency?
High fat content diet or increase lysine and leucine diet (ketogenic diet)
55
What are the 4 products that pyruvate can be metabolized to?
Alanine (muscles, uses B6)
OAA (TCA replenisher, gluconeogenesis, uses B7)
Acetyl-CoA (TCA, uses B1, B2, B3, B5)
Lactate (uses B3)
56
Which cells rely on Corii cycle (pyruvate --> lactate)?
RBCs, WBCs, kidney medulla, lens, testes, cornea
57
Which step in TCA cycle produces GTP?
Succinyl CoA --> Succinate
58
What is the mnemonic for the TCA cycle?
```
Citrate Is Krebs Starting Substrate For Making Oxaloacetate
Isocitrate
alpha-Ketoglutarate
Succinyl coA
Succinate
Fumarate
Malate
OAA
```
59
How much ATP does the TCA cycle produce per glucose?
10
60
Which complex of the electron transport chain does Rotenone inhibit?
Complex 1
61
Which complex of the ETC does Antinomycin inhibit?
Complex 3 (succinate dehyrdogenase)
62
Which complex of the ETC do Carbon monoxide and cyanide inhibit?
Complex 4
63
What effect do complex inhibitors of the ETC have on ATP levels and proton gradient?
decrease proton gradient and ATP synthesis
64
Which molecule directly inhibits ATP synthase?
Oligomycin
65
What is the effect of Oligomycin on ATP and proton gradient?
Increase proton gradient, decrease ATP production
66
What is the effect of uncoupling agents of the etc?
Increase oxygen consumption, decrease ATP production, but electron transport continues. produce heat
67
What are three ETC uncouplers?
2,4-Dinitrophenol (weight loss), Aspirin (fevers after OD), thermogenin in brown fat
68
What is the pentose phosphate pathway? (HMP shunt)
Metabolic pathway to produce NADPH
69
Which cells primarily use HMP shunt?
Red blood cells, liver and adrenal cortex cells, lactating mammary glands
70
How is NADPH generated?
Excess G6P is converted to 6-PG via G6DH and NADPH is produced
71
What are 3 major functions of NADPH?
Glutathione reduction (prevents oxidative damage)
Ribose synthesis for nucleotides
Cholesterol and fatty acid biosynthesis
72
Heinz bodies and bite cells are indicative of which malignancy?
G6PDH deficiency
73
How is G6PDH deficiency inherited ? What is its protective role?
Autosomal recessive, provides malarial resistance
74
What are the precipitating factors for hemolytic anemia in G6PDH?
recent infection, fava beans, sulfonamides, primaquine, antituberculosis drugs
75
How does glutathione provide fight against free radicals?
Used by glutathione peroxidase to neutralize H2O2 into 2H2O
76
Where does fructose metabolism occur?
Liver
77
What is essential fructosuria a disorder of?
Defect in fructokinase so cannot convert fructose to fructose-1-P
78
Which steps of fructose metabolism consume ATP?
fructokinase and triose kinase (Glyceraldehyde to G3P)
79
Which step of fructose metabolism consume NADH?
Glycerol to glyceraldehyde
80
What is the end product of fructose metaoblism?
G3P, enters glycolysis
81
What are the symptoms of essential fructosuria and how is it inherited?
Fructose in blood and urine; AR
82
What are the symptoms of fructose intolerance?
Hypoglycemia, jaundice, cirrhosis and vomiting
83
What is fructose intolerance a defect of
Aldolase B so cannot convert Fructose 1 P to DHAP or Glyceraldehyd
84
How does fructose intolerance lead to hypoglycemia?
Lowers availability of phosphate so glycogenolysis and gluconeogenesis cannot take place
85
What is the treatment for fructose intolerance?
Avoid foods with sucrose and fructose
86
What are the urine dipstick results for fructose intolerance?
negative; urine dipstick measures glucose and you don't have enough glucose in this d/o
87
Describe the mnemonic FAB GUT
Fructose is to Aldolase B as Galactose is to Uridiyltransferase; defects in both lead to phosphate depletion
88
What is the end-product of galactose metabolism?
Glucose-1-P, enters glycogenesis or glycolysis
89
What are the symptoms of galactokinase deficiency
Galactose in blood and urine, infantile cataracts
90
How can galactokinase deficiency present?
Failure to track objects or develop social smile
91
When do symptoms of galactose metabolism issues develop?
When infant begins feeding (breastmilk has lactose)
92
Which enzyme is absent in classic galactosemia?
galactose-1-phosphate uridyltransferase?
93
What are the symptoms of galactosemia?
Hepatomegaly, infantile cataracts, jaundice, failure to thrive
94
What causes infantile cataracts in galactose metabolism disorder?
Accumulation of galactitol, which accumulates in lens
95
What is the treatment for galactosemia in infants?
exclude galactose and lactose from diet
96
Infection with which agent leads to sepsis in neonates with galactosemia?
E. Coli
97
Which enzyme converts Glucose to Sorbitol?
Aldose reductase (with NADPH)
98
What care sorbitol accumulation in cells cause?
Osmotic damage (cataracts, peripheral neuropathy, retinopathy)
99
Which enzyme converts sorbitol to fructose?
Sorbitol dehydrogenase
100
Which organs contain both aldose reductase and sorbitol dehydrogenase?
Liver, ovaries and seminal vesicles
101
Which organs only contain Aldose reductase?
Schwann cells, retina, kidneys and lens
102
What are the 10 essential amino acids? (PVT TIM HALL)
```
Phenylalanine
Valine
Threonine
Tryptophan
Isoleucine
Methionine
Histidine
Arginine
Leucine
Lysine
```
103
Which amino acids are ketogenic?
Leucine and Lysine
104
Which amino acids are glucogenic?
Histidine, Valine, Methionine
105
What charge do acidic amino acids carry at body pH?
negative
106
Which two amino acids primarily compose histones?
Arginine and LYsine
107
Which two amino acids are essential during periods of growth?
Arginine and Histidine
108
What are the components of the urea cycle? (Orange Cars Citrus Asparagus Are Fun Artsy Urinators)
Ornithine + Carbamoyl phosphate --> Citrulline + Aspartate --> Arginosuccinate--> Fumarate --> Arginine -->Urea
109
What is the function of urea cycle?
Convert excess NH3 from protein metabolism to urea and excrete in urine
110
What does a defect in any step of the urea cycle lead to?
Hyperammonemia (elevated NH3 in blood)
111
What are the symptoms of hyperammonemia?
Asterixis, slurring of speech, somnolence, vomiting, cerebral edema, blurring of vision
112
Where is carbamoyl phosphate synthetase I found?
Mitochondria of liver
113
What is the Cahill cycle?
Conversion of Glucose to Ammonia (Alanine) in muscle, and Alanine (NH3) to glucose in liver
114
What is the consequence of hyperammonemia on metabolism?
Overactivity of Cahill cycle uses up alpha-ketoglutarate leading to inhibition of TCA cycle
115
What is lactulose used for and how does it function?
Decreases ammonia levels by acidifying GI tract and trapping NH4+ for excretion
116
What are 6 primary treatments for hyperammonemia?
Lactulose, Rifaximin, Benzoate, Phenylacetate, Phenylbutyrate
117
What is the function of Rifaximin in lowering ammonia levels?
Decreases colonic ammoniagenic bacteria
118
How do benzoate, phenylacetate and phenylbutyrate function to decrease ammonia?
bind to NH4+ and lead to excretion
119
How do N-acetylglutamate synthase deficiency and carbamoyl phosphate synthease I deficiency present in neonates?
Hyperammonemia--> poor control of respiration, body temperature, developmental delay, intellectual disability
120
How is ornithine transcarbamylase deficiency inherited?
XLR
121
How does ornithine transcarbamylase deficiency present?
elevated orotic acid in blood and urine, decrease BUN, symptoms of hyperammonemia (asterixis, slurring of speech, somnolence, vomiting, cerebral edema)
122
Which amino acid forms Heme?
Glycine (+B6)
123
Which amino acid forms NAD+/NADP+
Tryptophan (+B2, B6)
124
Which amino acid forms GABA and Glutathione?
Glutamate (+B6 for GABA)
125
Which amino acid forms Creatine, Urea and Nitric Oxide?
Arginine
126
Which amino acid forms Dopamine, NE, E, Tyrosine, Melanin?
Phenylalanine
127
Which enzyme is deficient in autosomal recessive Phenylketonuria?
Phenylalanine hydroxylase
128
Which amino acid accumulates in PKU?
Phenylalanine
129
What is the key clinical presentation of a baby with PKU?
MUSTY BODY ODOR, pale skin, eczema, seizures, growth retardation, intellectual disability
130
What is the treatment for PKU?
Avoid aspartame and phenylalanine, increase Tyrosine in diet and BH4 supplementation
131
If a mother has PKU how does neonate present?
microcephaly, intellectual disability, cardiac defects, growth retardation
132
Which enzyme is deficient in maple syrup urine disease?
branched-chain alpha-ketoacid dehydrogenase (or B1)
133
What is the defect in maple syrup urine disease?
Blocked degradation of branched amino acids Isoleucine, Leucine, Valine
134
List the branched amino acids (I Love Vermont Maple Syrup)
Isoleucine, Leucine, Valine
135
How does maple syrup urine disease present?
vomiting, poor feeding, urine smells like burnt sugar/maple syrup
136
What are the long-term consequences of untreated maple syrup urine disease?
Intellectual disability, severe CNS defects, death
137
How is maple syrup urine disease treated?
Avoid Isoleucine, Leucine, Valine in diet; B1 supplementation
138
What is Alkaptonuria?
Autosomal Recessive defect in Tyrosine metabolism to Fumarate
139
Which enzyme is deficient in Alkaptonuria and what accumulates in tissues?
Homogentisate oxidase is deficient; pigment-forming homogentisic acid accumulates in connective tissue
140
Clinical presentation of Alkaptonuria
Bluish-black pigments on sclerae (ochronosis) and connective tissue; urine turns black on prolonged exposure to air
141
What is a rheumatic consequence of alkaptonuria?
Debilitating arthralgias (homogentisic acid is toxic to cartilage); osteoarthropathy
142
How is homocysteinuria inherited?
Autosomal Recessive
143
Which enzymes may be deficient/defective in Homocysteinuria?
Cystathione synthase or Methionine Synthase
144
What is the treatment for Cystathione synthase Homocysteinuria?
Lower methionine intake, increase cysteine intake, increase B12 and folate intake
145
What is the treatment for methionine synthase deficient homocysteinuria
increase methionine in diet
146
What are the clinical findings of homocysteinuria?
Excess homocysteine in urine, intellectual disability, Marfanoid habitus, kyphosis, thrombosis, atherosclerosis, and lens subluxation
147
Which amino acids are lost in urine of patients suffering from cysteinuria?
Cystine, Ornithine, Lyscine, Arginine (COLA)
148
What is the treatment for cysteinuria
Alakanization of urine (Acetazolamide, postassium citrate) and chelating agents (penicillamine)
149
Which second messenger system does Insulin use to stimulate glycogenesis?
Tyrosine Kinase to activate Protein phosphatase to activate glycogen synthase
150
Which second messenger system do Glucagon and epinephrine (Beta receptor) use to activate glycogenolysis?
Adenylate cyclase --> cAMP--> PKA --> glycogen phosphorylase --> glycogenolysis
151
Which second messenger does epinephrine on alpha receptors (liver) use to activate glycogenolysis?
Calcium
152
Is glycogen synthase activated or inactivated by phosphorylation?
inactivated
153
Is glycogen phosphorylase activated or inactivated by phosphorylation?
Activated
154
Which method identifies glycogen in cells (Glycogen storage dz dx)?
Periodic acid-Schiff stain
155
What is Glycogen Storage Disease Type I?
Von Gierke's disease
156
Which enzyme is deficient in Von Gierke's (Type I)?
Glucose-6-phosphatase
157
What are the findings in Von Gierke's
Severe fasting hypoglycemia, gout (increased uric acid), increased triglycerides, hepatomegaly and increased glycogen in liver
158
What is the treatment for Von Gierke's
glucose and cornstarch supplementation, avoidance of fructose and galactose
159
Which enzyme is deficient in Pompe disease (Type II glycogen storage disorder)?
alpha-1,4 glucosidase in lysosomes
160
What are the clinical findings of Pompe disease?
Cardiomegaly, hypertrophic cardiomyopathy, exercise intolerance, early death
161
What enzyme storage disease is Cori?
Type III
162
Which enzyme is defective in Cori disease?
Debranching enzyme (alpha 1,6 glucosidase)
163
What are the findings of Cori disease?
Normal blood lactate, gluconeogenesis intact; milder fasting hypoglycemia, dextrin-like structures in cytosol
164
Which type of glycogen storage disease is McArdle?
Type V
165
Which enzyme is affected in McArdle disease?
Glycogen phosphorylase
166
What are the clinical findings in McArdle disease?
Muscle cramps, myoglobinuria with strenuous exercise, arrhythmia from electrolyte abnormalities
167
Name the 4 Glycogen Storage diseases
Von Gierkes, Pompe, McArdle and Cori
168
Name the 6 Sphingolipidoses Lysosomal Storage Diseases
Gaucher, Fabry, Niemann-Pick, Tay-Sachs, Krabbe and Metacrhomic Leukodystrophy
169
Which enzyme is defective in Gaucher disease?
Glucocerebrosidase
170
What are the clinical findings of Gaucher disease
Jaundice, hepatosplenomegaly, aseptic necrosis of femur, pancytopenia, osteoporosis
171
What are gaucher cells on histology?
Lipid laden macrophages (crumpled tissue appearance)
172
How is Gaucher disease inherited
Autosomal recessive
173
What is the enzyme deficiency in Krabbe disease?
Galactocerebrosidase
174
Which molecules accumulate in Krabbe disease?
Galactocerebroside, psychosine
175
Clinical findings of Krabbe disease
Peripheral neuropathy, optic atrophy, globoid cells, developmental delay
176
How is Krabbe disease inherited
Autosomal recessive
177
How is Tay Sachs disease inherited?
Autosomal Recessive
178
Which enzyme is deficient in Tay Sachs disease?
Hexosaminidase A
179
Which substance accumulates in Tay Sachs disease?
GM2 Ganglioside
180
What are presenting symptoms of Tay Sachs disease?
Developmental delay, progressive neurodegeneration, "cherry red spot" on macula, hepatosplenomegaly
181
What do you see on histology of Tay Sachs
Lysosomes with onion skin
182
How is Metachromatic Leukodystrophy inherited
Autosomal Recessive
183
What are the clinical findings of Methachromatic leukodystrophy?
Ataxia, central and peripheral demyelination, dementia
184
Which enzyme is deficient in Methachromatic Leukodystrophy
Arylsulfatase A
185
Which component builds up in Metachromatic Leukodystrophy?
Cerebroside Sulfate
186
members of Ashkenazi Jewish population are at risk of which lysosomal disorders?
Gaucher, Tay-Sachs, Niemann-Pick
187
Which enzyme is deficient in Niemann-Picks disease?
Sphingomyelinase
188
Which substance builds up in Niemann-Pick
Sphingomyelin
189
Clinical findings of Niemann-Pick
Progressive neurodegeneration, foam cells, hepatosplenomegaly, "cherry red" spot on macula
190
How is Fabry disease inherited
XLR
191
Which enzyme is deficient in Fabry disease?
alpha-galactosidase A
192
Which substance builds up in Fabry disease?
Ceramide Trihexoside
193
Clinical findings of Fabry
Peripheral neuropathy, angiokeratomas, hypohidrosis (no sweating)
194
Later findings of Fabry
Cardiovascular disease, renal failure
195
Name the two mucopolysaccharidoses Lysosomal storage disease
Hunter and Hurler
196
Which enzyme is defective in Hurler
alpha-L-iduronidase
197
Which substances build up in Hurler
Heparan sulfate, dermatan sulfate
198
Cllinical findings of Hurler
Developmental delay, corneal clouding, gargoylism, hepatosplenomegaly, airway obstruction
199
Clinical findings of Hunter
Mild Hurler and aggressive behavior (no corneal clouding)
200
Defective enzyme in Hurler
Iduronate Sulfatase
201
Which substances build up in Hunter
Dermatan sulfate, Heparan Sulfate
202
How is Hunter inherited
XLR
203
How is citrate transported from mitochondria to cytosol?
Citrate shuttle
204
Which molecule is required for fatty acid synthesis in the cytosol?
Citrate
205
How are fatty acids brought into the mitochondria for degradation?
Carnitine shuttle
206
What are the symptoms of carnitine deficiency?
Fatty acid accumulation in cytosol, weakness, hypotonia, hypoketotic hypoglycemia
207
What is the product of beta-oxidation in the mitochondria?
Acetyl-CoA, used for TCA cycle and ketone bodiess
208
A fasting infant or child that presents with vomiting, lethargy, seizures, coma and liver dysfunction and has hypoketotic hypoglycemia likely is deficient in which enzyme?
medium-chain acyl-CoA dehydrogenase
209
What's a key feature of ketoacidosis (accumulation of ketones in blood)?
Breath with fruity odor
210
Which ketone can urine test not detect?
beta-hydroxybutyrate (can detect acetoacetate)
211
How does alchoholism lead to ketoacidosis?
Buildup of NADH shunts OAA to malate, which builds up Acetyl-CoA, shunting to favor ketone generation
212
Why can RBCs not use ketones?
They lack mitochondria
213
How soon after starvation does the body run out of its glycogen store?
12-18 hours
214
After glycogenolysis is used up, how does body maintain glucose levels in state of starvation >24 hours?
Hepatic gluconeogenesis from lactate and alanine and adipose tissue glycerl and propionyl-coA
215
After 3 days of starvation, what is the primary source of energy?
Ketone bodies, eventual protein breakdown and eventual death
216
What are the four functions of cholesterol?
1. Maintain cell membrane integrity 2. Synthesize bile acid 3. Synthesize steroids 4. Synthesize Vitamin D
217
What is the rate-limiting step of cholesterol synthesis?
HMC-CoA reductase (induced by insulin)
218
What are lipoproteins?
Transport molecules composed of varying amounts of cholesterol, TGs, phospholipids
219
What are the two functions of chylomicrons?
Deliver dietary triglycerides to peripheral tissue and cholesterol to liver
220
What is function of VLDL?
Deliver hepatic triglycerides to peripheral tissues
221
What is the function of IDL?
Deliver TGs and cholesterol to liver
222
What is the function of LDL? How is to formed?
Deliver hepatic cholesterol to peripheral tissues. Formed by hepatic modification of IDL
223
What is the function of HDL?
Delivers cholesterol from peripheral tissues to liver, storage for apolipoproteins C and E (needed for chylomicron and VLDL metabolism); secreted by liver and intestine
224
Why is it good to sip a glass of wine at dinner?
Increases HDL synthesis
225
Which enzymes are deficient in Familal Hyperchylomicronemia?
Lipoprotein lipase or ApoCII
226
Which lipids are elevated in Type I dyslipidemia (hyperchylomicronemia)?
Chylomicrons, TG and cholesterol
227
Clinical findings of hyperchylomicronemia?
Pancreatitis, hepatosplenomegaly, and eruptive/pruritive xanthomas!!!
Creamy supernatant in blood draw
228
How is hyperchylomicronemia inherited
AR
229
What is Type IIa familial dyslipidemia?
Familial hypercholesterolemia
230
How is Familial Hypercholesterolemia inherited?
AD
231
Which enzyme is defective or absent in familial hypercholesterolemia?
LDL Receptor
232
Which lipids are elevated in familal hypercholesterolemia?
LDL, cholesterol
233
What are the three major findings and risks of patients with Familial Hypercholesterolemia?
Accelerated atherosclerosis (MI by 20s), corneal arcus (blue/grey ring around cornea), tendon (Achilles) xanthomas
234
What is type IV familial dyslipidemia?
Hypertriglyceridemia
235
How is Familial Triglyceridemia inherited
AD
236
What is the pathogenesis of Hypertriglyceridemia?
hepatic overproduction of VLDL
237
Which lipids are increased in blood in Hypertriglyceridemia?
VLDL, TG
238
How would a patient with hyper triglyceridemia likely present?
Triglycerides > 1000mg/dL; acute pancreatitis
239
The Ras pathway uses ATP or GTP
GTP
240
Where are medium chain fatty acids oxidized
Mitochondria
241
Where are very long chain fatty acids oxidized
Peroxisomes
