FOM Final Flashcards
(281 cards)
1
Q
Acidic amino acids
A
Aspartic acid, Glutamic acid
2
Q
Basic amino acids
A
Lysine, Histidine, Arginine
3
Q
Uncharged amino acid side chains (6)
A
Asparagine, Cysteine, Glutimate, Serine, Threonine, Tyrosine
4
Q
Non-polar amino acid side chains (8)
A
Alanine, Glycine, Isoleucine, Methionine, Phenylalanine, Proline, Tryptophan, Valine
5
Q
Function of the actin-binding protein Arp2/3 complex
A
Initiate growth of branched actin fibers
6
Q
Function of dystrophin
A
Mediate actin binding with transmembrane protein in muscles
7
Q
Arp2/3 dysfunctions (3)
A
Platelet abnormalities, cutaneous vasculitis, eosinophillia
8
Q
Dystrophin dysfunction (1)
A
Muscular dystrophy
9
Q
Function of spectrin
A
Cytoskeletal organization in erythrocytes (spheres instead of disk shape)
10
Q
Spectrin dysfunction (1)
A
Hereditary spherocytosis
11
Q
Key goal of mitosis
A
Identical diploid cells are created
12
Q
Key goal of prophase
A
Nuclear membrane disappears
13
Q
Key goal of metaphase
A
Chromosomes align in middle of cell
14
Q
Key goal of anaphase
A
Sister chromatids move to oppposing sides
15
Q
Key goal of telophase
A
Nuclear membrane and nucleolus reappear
16
Q
Key goal of meiosis
A
Gametogenesis, Four haploid cells are formed
17
Q
What cell cycle phase is responsible for genetic diversity
A
Prophase 1
18
Q
What transcription factors are responsible for IPSC’s
A
Sox2, Oct3/4, Nanog
19
Q
What protein detection technique is qualitative
A
Western
20
Q
What protein detection technique is quantitative
A
ELISA
21
Q
What protein detection technique is visual
A
IHC
22
Q
What inhibitor type has Km increase and Vmax the same
A
Competetive
23
Q
What inhibitor type has Km stay the same and Vmax decrease
A
Noncompetetive
24
Q
G-alpha-protein s function
A
Stimulate adenylate cyclase, increasing cAMP and activating PKA
25
G-alpha-protein i function
Inhibit adenylate cyclase, inhibiting cAMP
26
G-alpha-protein q function
Activate phospholipase C-beta, increasing IP3 and DAG which activate PKC
27
G-alpha-protein 12 function
Activate Rho proteins and regulates actin cytoskeleton, also activates Ras proteins
28
What protein does cholera toxin affect
G-alpha-s
29
What protein does diphtheria toxin affect
Elongation factor 2 (EF2)
30
What protein does pertussis toxin affect
G-alpha-i
31
What protein does botulinum C3 protein affect
G12 (Rho proteins)
32
What mutation leads to Li-Fraumeni syndrome
TP53
33
What mutation leads to Lynch syndrome
MLH1, MSH2, EPCAM
34
What mutation leads to Cowden syndrome
PTEN
35
What mutation leads to Peutz-Jeghers syndrome
SMAD4, BMPR1A
36
Function for gene BCR-ABL
Non-receptor tyrosine kinase
37
Function of JAK2
Non-receptor tyrosine kinase
38
Function of C-myc
Transcription factor
39
Function of Bcl-2
Anti-apoptic protein
40
Gain of function cancer associated with BCR-ABL
CML(t9:22/Philadephia)
41
Gain of function cancer associated with JAK2
Chronic myeloproliferative disorders
42
Gain of function cancer associated with C-myc
Burkitt lymphoma
43
Gain of function cancer associated with Bcl-2
Follicular lymphoma, diffuse large B cell lymphoma
44
Affected enzyme in Gaucher
Glucocerebrosidase
45
Affected enzyme in Fabry
Alpha-glactosidase A
46
Affected enzyme in Tay-Sachs
Hexosaminidase A
47
Affected enzyme in Krabbe
Galactocerebrosidase
48
Affected enzyme in metachromatic leukodystrophy (MLD)
Arylsulfatase A
49
Confirmatory test result for I-cell
Elevated lysosomes in blood (Inclusion bodies)
50
Confirmatory test result for Gaucher
Elevated chitotriosidase
51
Confirmatory test result for Fabry
Elevated globotriaosylceramide
52
Confirmatory test result for Tay-Sachs
Elevated GM2 gangliosides
53
Confirmatory test result for Niemann-Pick
Elevated sphingomyelin
54
Confirmatory test result for metachromatic leukodystrophy (MLD)
Elevated sulfatides
55
Confirmatory test result for Hunter
Elevated urinary glycosaminoglycan, absence of iruordonate-2-sulfatase
56
Symptoms of I-cell
Coarse facial features, developmental delay, skeletal abnormalities, restricted joint movement, enlarged liver and spleen
57
Symptoms of Gaucher
Enlarged liver and spleen, bone pain, fatigue, bruising and bleeding, lung disease, growth retardation
58
Symptoms of Niemann-Pick
Enlarged liver and spleen, neurological decline, ataxia, interstitial lung disease, feeding difficulties, failure to thrive
59
Symptoms of metachromatic leukodystrophy (MLD)
Progressive neurological decline, motor function loss, behavioral changes, seizures, peripheral neuropathy
60
Symptoms of Krabbe
Optic atrophy
61
Symptoms of Hunter
Aggressive behavior, hepatosplenomegaly differential: no corneal clouding
62
What is cytosine arabinoside
Inhibitor of DNA synthesis in S-Phase
63
What is a palindrome
Sequence of DNA that reads the same as the complimentary strand
64
What is the mechanism for BER
DNA glycosylases
65
What cell cycle stage is NER active
G1
66
Associated diseases of BER
Colorectal (MBD4) and gastric (NEIL1) cancers
67
Associated diseases of NER
Xermadosa pigmentosa
68
Associated diseases of MMR
Lynch syndrome
69
Associated diseases of HR
Fanconi anemia
70
Associated diseases of NHLJ
Ataxia Telangiectasia
71
Symptoms of fanconi anemia
Short stature, caf魡u-lait spots, thumb/forearm malformations
72
What cell cycle stage is HR active
Late S/G2
73
Cause of Prader-Willi
Loss of function of paternally expressed genes in the chromosome 15 (15q11-q13 )
74
Cause of Angelman
Loss of the maternal copy of chromosome 15q11 encoding the gene UBE3A (ubiquitin-protein ligase E3A)
75
Cause of Beckwith-Weidmann
Abnormal regulation of imprinted genes in the 11p15.5 region, often due to paternal uniparental disomy
76
Symptoms of Prader-Willi
Temper tantrums, stubbornness, compulsiveness); short stature, hypogonadism
77
Symptoms of Angelman
Ataxia, frequent laughing and smiling, widely spaced teeth and an abnormally flat back of the head are indicative of postnatal microcephaly
78
Symptoms of Beckwith-Weidmann
Macroglossia, neonatal hypoglycemia, hemi-hyperplasia
79
Source of insulin
Beta cells of the pancreas
80
Source of glucagon
Alpha cells of the pancrease
81
Source of epinephrine
Adrenal medulla
82
Source of cortisol
Adrenal cortex
83
Source of growth hormone
Anterior pituitary gland
84
Function of insulin
Lowers blood glucose by promoting anabolic processes
85
Function of glucagon
Raises blood glucose by promoting catabolic processes
86
Function of epinephrine
Increases blood glucose and free fatty acids during stress
87
Function of cortisol
Maintains blood glucose levels during prolonged stress
88
Function of growth hormone
Promotes growth and metabolism
89
Activation of insulin
Released in response to high blood glucose levels (fed state)
90
Activation of glucagon
Released in response to low blood glucose levels (fasted state)
91
Activation of epinephrine
Released in response to stress or low blood glucose
92
Activation of cortisol
Released in response to stress (hypoglycemia)
93
Activation of growth hormone
Released in response to hypoglycemia, exercise, and stress
94
Effects on metabolism for insulin
Promotes: Glucose uptake, Glycogenesis, Lipogenesis, Protein synthesis. Inhibits: Glycogenolysis, Gluconeogenesis, Lipolysis
95
Effects on metabolism for glucagon
Promotes: Glycogenolysis, Gluconeogenesis, Ketogenesis. - Inhibits: Glycogenesis, Lipogenesis
96
Effects on metabolism for epinephrine
Promotes: Glycogenolysis, Lipolysis. - Inhibits: Insulin secretion
97
Effects on metabolism for cortisol
Promotes: Gluconeogenesis, Proteolysis, Lipolysis. - Inhibits: Insulin effects on glucose uptake (in peripheral tissues)
98
Effects on metabolism for growth hormone
Promotes: Lipolysis, Gluconeogenesis. - Reduces: Glucose uptake in tissues (insulin antagonism)
99
What hormones activate adenylyl cyclase
Epinephrine, Glucagon
100
What hormones increase cAMP
Epinephrine, Glucagon
101
What hormones activate PKA
Epinephrine, Glucagon
102
What hormones activate hormone sensitive lipase (HPL)
Epinephrine, Glucagon
103
Epinephrine primary effect on adipocytes
Lipolysis: Breakdown of triglycerides into free fatty acids and glycerol
104
Glucagon primary effect on adipocytes
Lipolysis: Breakdown of triglycerides into free fatty acids and glycerol
105
Secondary effects of epinephrine
Promotes gluconeogenesis, glycogen breakdown (glycogenolysis; Activation of cAMP, PKA in turn activates glycogen phosphorylase, a rate-limiting enzyme)
106
Secondary effects of glucagon
Promotes gluconeogenesis (increased PKA
decreases fructose-2,6-bisphosphate and
activates fructose-1,6-bisphosphatse) and
glycogenolysis in the liver
107
What effect does caffeine have on metabolism
Inhibits cAMP phosphodiesterase. By inhibiting cAMP-PDE, it activates PKA and enhances glucagon or epinephrine responses.
108
What diabetes type is prone to ketoacidosis and why
Type 1, due to inadequate insulin treatment
109
Symptoms of ketoacidosis
Polyuria, dehydration, thirst, CNS depression and coma, potential depletion of K+, decreased plasma bicarbonate, dry mucous membranes, breathing difficulties, sweet/fruity breath
(acetone), increased acetoacetate (ketone bodies) in the urine. Treating with insulin will stimulate glucose uptake to muscle and adipose tissue from the blood and reduce hyperglycemia and control ketoacidosis.
110
Steps of glycolysis that consume energy
1-hexokinase, 3-PFK-1
111
Steps of glycolysis that release energy
6-glyceraldehyde-3-phosphate dehydrogenase, 7-phosphoglycerate kinase, 10-pyruvate kinase
112
First and last compound in PPP/HMP Shunt
Glucose-6-phosphate, ribose-5-phosphate
113
Important enzymes in MRPathway
Glyceraldehyde-3-phosphate dehydrogenase, Cyst b5 reductase
114
Enzymes and substrate in LR Shunt
[Bisphosphoglycerate mutase] 2,3 BPG [Bisphosphoglycerate phosphatase]
115
What enzyme deficiency presents as hereditary hemolytic anemia, reduced ATP, and increased 2,3 BPG
Pyruvate kinase
116
Important enzyme of PPP/HMP Shunt
G6PD
117
What deficiency presents as hemolytic anemia, Heinz bodies, prolonged neonatal jaundice, and decreased levels of NADPH and pentose sugars
G6PD
118
What disease does G6PD deficiency protect against
Malaria
119
What is the importance of DHAP
is involved in several pathways other than glycolysis. DHAP reduced to glycerol-3-phosphate (forms glycerol backbone in triglycerides); in gluconeogenesis, it is converted to glyceraldehyde-3-phosphate
120
What is the importance of pyruvate carboxylase
Acetyl Coenzyme A activates mitochondrial enzyme pyruvate carboxylase, which catalyzes irreversible
carboxylation of pyruvate to form oxaloacetate. Involved in gluconeogenesis and synthesis of the neurotransmitters such as
glutamate
121
What can pyruvate carboxylase deficiency cause
The deficiency of this enzyme also cause decrease in the citrate, aspartate and phosphoenolpyruvate levels as these
compounds are formed from the oxaloacetate.
122
What is the treatment for arsenic poisoning
Arsenic cheleating agents (dimercaprol)
123
What B vitamins are cofactors for pyruvate dehydrogenase (4)
B1 (thiamin)
B2 (riboflavin)
B3 (niacin)
B5 (pantothenate)
124
Is PDH a TCA enzyme
No
125
What B vitamins are cofactors for alpha-ketogluterate dehydrogenase (4)
B1 (thiamin)
B2 (riboflavin)
B3 (niacin)
B5 (pantothenate)
126
What B vitamins are cofactors for succinate dehydrogenase
B2 (riboflavin)
127
Where is SDH located
Mitochondrial membrane (Complex II)
128
What disease is associated with B1 deficiency
Werneike-Karsacoff encephalopathy
129
Symptoms of Werneike-Korsacoff (3)
**Lactic acidosis
Neurological disturbances**
**Paralysis**
Atrophy of limbs
Cardiac failure
130
What disease is associated with SDH deficiency
Leigh syndrome
131
Symptoms of SDH deficiency (3)
**Leigh syndrome
Hypertrophic cardiomyopathy**
Muscle weakness
**Cerebral ataxia**
Optic atrophy
132
Symptoms of fumrase gene deficiency (5)
**Abnormally small head size**
**Abnormal brain structure**
Developmental delay
Weak muscle tone
**Face frontal bossing
Depressed nasal bridge**
**Widely spaced eyes**
133
Symptoms of succinyl-CoA synthetase deficiency (2)
**Cephalomyopathy**
Developmental delay
**Dystonia**
Lactic acidosis
134
What is affected by succinyl-CoA synthetase deficiency
SCA and glycine cannot form aminolevulinic acid (heme synthesis). TCA is also interrupted as SCA is intermediate generated by alpha-ketogluterate
135
What molecule is created by SDH
FADH2
136
Inhibitor of ETC Complex I (NADH Oxidoreductase)
Rotenone
137
Inhibitor of ETC Complex II (Succinate Dehydrogenase)
Malonate
138
Inhibitor of ETC Complex III (Ubiquinone-Cytchrome C Oxidoreductase)
Antimycin A
139
Inhibitor of ETC Complex IV (Cytochrome-C Oxidase)
Cyanide
140
Inhibitor of ETC ATP Synthase
Oligomycin
141
MOA of 2,4-DNP
Protonophore that carries protons across the inner mitochondrial membrane, dissipating the proton gradient and uncoupling oxidative phosphorylation, and heat production
142
MOA of UPC's
Proteins (e.g., UCP1, UCP2, UCP3) that allow protons to re-enter the mitochondrial matrix without producing ATP, leading to heat generation (thermogenesis)
143
How is UPC1 unique
It is involved in non-shivering thermogenesis in brown adipose tissue
144
Rate-limiting step of gluconeogenesis
Fructose-1,6-bisphosphatase
145
Is G6PD to glucose reversible
No
146
Rate-limiting step of glycogen synthesis
Glycogen synthase (UDP-Glucose to glycogen)
147
Rate-limiting step of glycogenolysis
Glycogen phosphorylase (G1P from glycogen)
148
Regulation of glycogen synthesis
Insulin activates glycogen synthase and inhibits glycogen phosphorylase. G6PD is allosteric activator
149
Hormones that regulate glycogenolysis
Glucagon and epinephrine activate glycogen phosphorylase and inhibit glycogen synthase. Insulin inhibits
150
Enzyme deficient in GSD Type 1 (von Gierke)
Glucose-6-phosphatase
151
Enzyme deficient in GSD Type 2 (Pompe)
Lysosomal alpha-1,4-glucosidease
152
Enzyme deficient in GSD Type 3 (Cori/Forbes)
Debranching enzyme (alpha-1,6-glucosidase)
153
Enzyme deficient in GSD Type 5 (McArdle)
Muslce glycogen phosphorylase
154
Function of glucose-6-phosphatase
G6P to glucose in the liver
155
Fuction of lysosomal alpha-1,4-glucosidease
Glycogen storage in myocytes
156
What accumulates in GSD Type III (Cori/Forbes)
Limit dextrin-like structures
157
Symptoms of GSD Type I (von Gierke) (7)
**Severe fasting hypoglycemia
Renomegaly**
Hepatomegaly
**Lactic acidosis
Hyperuricemia**
**Hyperlipidemia (doll-like face)**
Failure to thrive
**Thin limbs
Distended abdomen**
158
Symptoms of GSD Type II (Pompe) (1)
Enlarged tongue
Hypotonia
**Hypertrophic cardiomyopathy**
159
Symptoms of GSD Type III (Cori/Forbes) (4)
**Milder form of Von Gierke**
Hepatomegaly
**Hypoglycemia**
**Hypotonia
Cardiomyopathy**
Blood lactate levels are normal
Functional gluconeogenesis
160
Symptoms of GSD Type V (McArdle) (2)
**Myoglobinuria with strenuous exercise
Second wind phenomenon**
Cardiac arrythmias
No change in blood glucose
161
Cofactors for Acetyl-CoA Carboxylase
ATP, Biotin, CO2
162
What hormone activates Acetyl-CoA Carboxylase
Insulin
163
What is an allosteric activator of Acetyl-CoA Carboxylase
Citrate
164
What is the lipid transporter for endogenous lipids
VLDL
165
What is the lipid transporter for exogenous lipids
Chylomicron
166
What increases chylomicronmediated transport of dietary lipids
Increase in triglycerides
167
What enxymes are biotin a cofactor for (2)
Acetyl CoA carboxylase (to malonyl CoA in step 1 FA synthesis)
Pyruvate carboxylase (pyruvate to oxaloacetate in gluconeogenesis)
168
Function of HMG-CoA reductase
HMG-CoA to mevalonate in cholesterol synthesis
169
Cholesterol is precursor for (3)
Bile acids
Membrane fluidity
Steroid hormone synthesis
170
What is the effect of statins
Inhibit HMG-CoA reductase, which reduces LDL, inflammation, and stabilizes arteriol plaques
171
Key enzymes of beta-oxidation (4)
Acyl-CoA dehydrogenase (dehydrogenation)
Enoyl-CoA hydratase (hydration)
Beta-Hydroxyacyl-CoA dehydrogenase (oxidation)
**Acyl-CoA acetyltransferase (thiolysis)**
172
What proves disruption of beta oxidation (3)
**Increased acyl-carnitine
Decreased beta-hydroxybutyrate**
Hypoglycemia
**Decreased ketogenesis**
Muscle weakness
173
Disease associated with alpha oxidation
Resfum's disease
174
Deficient enzyme in Resfum's disease
Phytanoyl-CoA Hydroxylase
175
Accumulated substance in Resfum's disease
Phytanic acid
176
Symptoms of Resfum's disease (4)
Neuropathy (peripheral nerve damage)
**Retinitis pigmentosa (vision loss)**
Ataxia
**Hearing loss
Scaly skin (ichthyosis)
Cardiac arrhythmia**
177
Diseases associated with beta-oxidation (3)
MCAD deficiency
CPT I deficiency
CPT II deficiency
178
Deficient enzyme in MCAD deficiency
Medium-Chain Acyl-CoA Dehydrogenase
179
Deficient enzyme in CPT I deficiency
Carnitine Palmitoyltransferase I (CPT I)
180
Deficient enzyme in CPT II deficiency
Carnitine Palmitoyltransferase II (CPT II)
181
Accumulated substance in MCAD deficiency
Medium-chain fatty acids (c8-c10 acyl-carnitines)
182
Accumulated substance in CPT I deficiency
Long-chain fatty acids
183
Accumulated substance in CPT II deficiency (2)
Long-chain fatty acids
Acyl carnitines
184
Symptoms of MCAD deficiency (4)
**Hypoglycemia (especially during fasting, no ketone bodies)
Vomiting
Lethargy
Seizures**
Sudden death in severe cases
185
Symptoms of CPT I deficiency (2)
**Hypoketotic hypoglycemia
Liver dysfunction**
Muscle weakness triggered by fasting or illness
186
Symptoms of CPT II deficiency (3)
Muscle pain and stiffness
**Myoglobinuria** (dark urine)
**Increased serum creatine kinase**
Muscle weakness
**Rhabdomyolysis** (severe muscle breakdown) triggered by prolonged exercise/fasting
187
Enzymes that detoxify ammonia (4)
Aminotransferases (Transaminases)
Ornithine transcarbamylase (OTC)
Argininosuccinate synthetase (ASS)
Arginase
188
Function of aminotransferases/transaminases
Catalyze the transfer of amino groups from amino acids to alpha-keto acids
189
Function of ornithine transcarbamylase (OTC)
Converts carbamoyl phosphate and ornithine into citrulline
190
Function of argininosuccinate synthetase (ASS)
Forms argininosuccinate from citrulline and aspartate
191
Function of arginase
Hydrolyzes arginine to produce urea and regenerate ornithine, completing the urea cycle
192
Key metabolites of aminotransferases/transaminases
Aspartate (AST), Alanine (ALT), (liver problem markers)
193
Key metabolites of ornithine transcarbamylase (OTC)
Citrulline, Carbamoyl Phosphate, Ornithine
194
Key metabolites of argininosuccinate synthetase (ASS)
Citrulline, Aspartate
195
Key metabolites of arginase
Arginine
196
Associated diseases of aminotransferases/transaminases
Liver diseases (e.g., hepatitis, cirrhosis) indicated by elevated AST/ALT levels
197
Associated diseases of ornithine transcarbamylase (OTC)
Leads to hyperammonemia, Increased orotic acid to creatine ratio, No urinary ketone, decreased citrulline, increased ornithine
198
Associated diseases of arginase
Argininemia (arginase deficiency leads to hyperammonemia, spasticity, growth delay)
199
Pathogenesis of dyslipidemia type I (Hyperchylomicronemia)
Lipoprotein lipase
200
Pathogenesis of dyslipidemia type II (Hypercholesterolemia)
Lack of/defect in LDL receptor
201
Pathogenesis of dyslipidemia type III (Dysbetalipoproteinemia)
ApoE
202
Pathogenesis of dyslipidemia type IV (Hypertriglyceridemia)
VLDL overproduction
203
Symptoms of dyslipidemia type I (Hyperchylomicronemia)
Recurrent Pancreatitis, hepatosplenomegaly, eruptive xanthomas, creamy layer in supernatant of blood after centrifugation
204
Symptoms of dyslipidemia type II (Hypercholesterolemia)
Accelerated atherosclerosis (young age), achilles xanthomas, corneal arcus
205
Symptoms of dyslipidemia type III (Dysbetalipoproteinemia)
Premature atherosclerosis, tuberoeruptive and palmar xanthomas
206
Symptoms of dyslipidemia type IV (Hypertriglyceridemia)
Hypertriglyceridemia (> 1000 mg/dL) can cause acute pancreatitis. Related to insulin resistance
207
Pathology of tangier disease
ABCA1 mutation
208
Symtpoms of tangier disease (2)
**Accelerated atherosclerosis**
Coronary and carotid artery stenosis
Distal muscle weakness
Peripheral axonal neuropathy
Hepatosplenomegaly
**Orange discolored tonsils**
209
Function of phenylalanine hydroxylase (PAH)
Phenylalanine to tyrosine
210
Function of cystathionine beta-synthase (CBS)
Homocysteine + serine to cystathionine
211
Function of branched-chain aminotrnasferase
Leucine, isoleucine, valine to alpha-keto acids
212
Function of aspartate aminotranferase (2)
Aspartate to oxaloacetate and glutamate to alpha-ketogluterate
213
Associated disease of phenylalanine hydroxylase (PAH)
Phenylketonuria (Seizures, **musty odor** in breath, eczema, pale skin, light blue eyes, developmental delay) musty odor in the breath, skin, urine
214
Associated disease of cystathionine beta-synthase (CBS)
Homocystinuria (can be treated with pyridoxine,
folate, cobalamin)
215
Associated disease of branched-chain aminotransferase
Maple Syrup Urine Disease (**sweet smelling urine**; poor feeding, vomiting, hypotonia)
216
Associated disease of aspartate aminotranferase
Liver diseases (e.g., hepatitis, cirrhosis)
217
What deficiency causes Lesch-Nhyan
Hypoxanthine-guanine phosphoribosyltransferase (HGPRT) gene
218
Function of HGPRT
Purine salvage. Converts guanine to GMP and hypoxanthine to IMP
219
Confirmatory results of Lesch-Nhyan (3)
Increase in purine catabolism, PRPP, uric acid
220
Increase in uric acid causes
Gout
221
What drug prevents gout
Allopurinol by inhibiting xanthine oxidase from converting hypoxanthine to xanthine and xanthine to uric acid. Increases xanthine and hypoxanthine in urine
222
What causes orotic aciduria
Defect in uridine-5-phosphate synthase (converts orotic acid to UMP)
223
Symptoms of orotic aciduria (3)
Excessive orotic acid in urine
Growth retardation
Anemia
224
Drug that treats orotic aciduria
Uridine
225
Cofactors for ribonucleotide dehydrogenase(reductase) (2)
Thioredoxin, B12
226
What is hydroxyurea (hydroxycarbamide)
Only FDA approved drug for ribonucleotide reductase inhibitor. Used for sickle cell anemia, CML, thrombocythemia, polycythemia vera
227
What is used for lymphomas and chromic myelocytic leukemia (CML)
Fludarabine phosphate
228
Gemcitabine is used for (5)
Pancreatic, ovarian, bladder and lung cancer, and non-Hodgkins lymphoma
229
ALAS I is located in
Liver
230
ALAS II is located in
Erythrocytes
231
What effect do barbiturates have on the heme pathway
Induces ALAS I to increase P450
232
What causes Gilbert's syndrome
Mutated UGT1A1
233
What causes Crigler-Najjar syndrome
Mutated UGT1A1 - uridine diphosphate glucuronosyltransferase
234
Difference between type 1 and type 2 of Crigler-Najjar syndrome
Type 1 has kernicterus (brain damage)
Type 2 does not
235
What increases methemoglobin (3)
Drugs
Endogenous agents
Deficiency in NADH-Cytochrome b5 reductase
236
What erythropoiesis condtion causes a decrease in erythropoiesis
CKD
237
Mechanism for hypoxia
HIF-a interacts with HIF-b to transcriptionally activate erythropoiesis
238
Mechanism for CKD
Oxidative stress causes methylation of HRE (epigenetic changes)
239
Mechanism for polycythemia vera
JAK2 GoF leads to abnormal bone marrow differentiation
240
When are RBC 2,3-BPG levels low
Hexokinase deficiency
241
When are RBC 2,3-BPG levels high
Pyruvate kinase deficiency
242
Cherry red blood indicates
Carboxyhemoglobin (CO poisoning)
243
Chocolate brown blood indicates
Methemoglobin (treat with methylene blue)
244
Difference between beta-thalassemia minor and major
Minor has HbA/HbA2
Major has HbA/**HbF**/HbA2
245
Difference between sickle-cell trait and sickle cell anemia
Sickle-cell trait has **HbA**/HbS/HbA2
Anemia has **HbF**/HbS/HbA2
246
What mediates platelet adhession
GP1b-GPIX-GPV receptor
247
What is required for fibrin-induced platelet aggregation
GPIIb-GPIIIa receptor activation
248
What causes a decrease in factor VIII
vWF deficiency
249
Where is tissue factor (TF/thromboplastin/factor III) released from (3)
Various tissue
Damaged cells
Platelets
250
Where are calcium ions (factor IV) released from
Plasma
251
Where are anti-hemophillic factor (AHF/factor VIII) released from
Liver sinusoid endothelial cells (LSEC), not hepatocytes
252
Where are plasma thromboplastin component (PTC) released from
Liver (Vitamin K required for release)
253
Function of factor III
Activates extrinsic coagulation pathway
254
Function of factor IV
Most of the steps in coagulation pathway requires calcium
255
Pathway and deficiency of factor VIII
Intrinsic pathway
Deficiency leads to hemophilia A (X-linked recessive, males)
256
Pathway and deficiency of factor IX
Intrinsic pathway
Deficiency leads to hemophilia B (X-linked recessive, males)
257
What is protein C
Vitamin K dependent enzyme that degrades factors V and VIII
258
What does heparin activate
Antithrombin III (thrombin inhibitor)
259
What does thrombin activate (3)
Factors VIII and V, converts fibrinogen to fibrin
260
Associated diseases to calciferol (Vit D) deficiency (2)
Ricketts (kids)
Osteomalacia (adults)
261
Symptoms of calciferol deficiency (5)
Muscle weakness
**Brittle bones
Increased risk of bone fractures
Bowed legs
Short stature**
262
Functions of Vitamin K (2)
Mediates gamma-glutamate carboxylation and coagulation factors
263
Symptoms of Vitamin K deficiency
Increase in PT and PTT
264
What pathway is associated with PT
Extrinsic
265
What pathway is associated with PPT
Intrinsic
266
Symptoms of B1 deficiency (6)
Fatigue
Irritability
**Confusion
Neurological problems
Abnormal eye movements
Ataxia**
267
Symptoms of B3 deficiency (3)
**Dermatitis
Diarrhea
Dementia**
Inflamed mucous membrane
268
Disease associated with B3 deficiency
Pellagra
269
Disease associated with B9 deficiency
Megaloblastic anemia
270
Disease associated with B12 deficiency
Pernicious anemia
271
Lab results of B9 deficiency
Elevated homocysteine
272
Lab results of B12 deficiency (2)
Elevated homocysteine and methylmalonic acid
273
What are the test results to confirm iron-deficiency
Serum iron, ferritin, and hemoglobin are decreased. This means serum transferrin saturation is decreased and TIBC is increased
274
Gene mutation causing hereditary hemochromotosis type 1
HFE (HLA class I-like protein)
275
Gene mutations causing hereditary hemochromotosis type 2 (2)
HJV (hemojuvelin) or HAMP (hepcidin)
276
Symptoms of hereditary hemochromotosis type 1 (4)
Fatigue
Weakness
Joint pain (hands)
**Hepatomegaly
Diabetes mellitus ("bronze diabetes")
Skin hyperpigmentation**
Hypogonadism
**Cardiac arrhythmias**
Cirrhosis
Risk of hepatocellular carcinoma
277
Symptoms of hereditary hemochromotosis type 2 (4)
**Severe iron overload at an early age**
Hypogonadism (delayed puberty)
**Cardiomyopathy**
Joint pain
**Arthritis**
Liver disease (**fibrosis**, cirrhosis)
Diabetes mellitus
Hyperpigmentation
278
Lab results of hereditary hemochromotosis type 1 (3)
Elevated serum ferritin
Elevated transferrin saturation
Genetic testing for HFE mutations (C282Y and H63D)
279
Lab results of hereditary hemochromotosis type 2 (3)
Markedly elevated serum ferritin
Elevated transferrin saturation
Genetic testing for HJV or HAMP mutations
280
What does methotrexate do
Inhibit dihydrofolate reductase
281
What is methotrexate used for
Psoriasis, cancer, RA
