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Noorda FOM > FOM Final > Flashcards

FOM Final Flashcards

1
Q

Acidic amino acids

A

Aspartic acid, Glutamic acid

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2
Q

Basic amino acids

A

Lysine, Histidine, Arginine

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3
Q

Uncharged amino acid side chains (6)

A

Asparagine, Cysteine, Glutimate, Serine, Threonine, Tyrosine

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4
Q

Non-polar amino acid side chains (8)

A

Alanine, Glycine, Isoleucine, Methionine, Phenylalanine, Proline, Tryptophan, Valine

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5
Q

Function of the actin-binding protein Arp2/3 complex

A

Initiate growth of branched actin fibers

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6
Q

Function of dystrophin

A

Mediate actin binding with transmembrane protein in muscles

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7
Q

Arp2/3 dysfunctions (3)

A

Platelet abnormalities, cutaneous vasculitis, eosinophillia

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8
Q

Dystrophin dysfunction (1)

A

Muscular dystrophy

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9
Q

Function of spectrin

A

Cytoskeletal organization in erythrocytes (spheres instead of disk shape)

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10
Q

Spectrin dysfunction (1)

A

Hereditary spherocytosis

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11
Q

Key goal of mitosis

A

Identical diploid cells are created

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12
Q

Key goal of prophase

A

Nuclear membrane disappears

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13
Q

Key goal of metaphase

A

Chromosomes align in middle of cell

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14
Q

Key goal of anaphase

A

Sister chromatids move to oppposing sides

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15
Q

Key goal of telophase

A

Nuclear membrane and nucleolus reappear

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16
Q

Key goal of meiosis

A

Gametogenesis, Four haploid cells are formed

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17
Q

What cell cycle phase is responsible for genetic diversity

A

Prophase 1

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18
Q

What transcription factors are responsible for IPSC’s

A

Sox2, Oct3/4, Nanog

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19
Q

What protein detection technique is qualitative

A

Western

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20
Q

What protein detection technique is quantitative

A

ELISA

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21
Q

What protein detection technique is visual

A

IHC

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22
Q

What inhibitor type has Km increase and Vmax the same

A

Competetive

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23
Q

What inhibitor type has Km stay the same and Vmax decrease

A

Noncompetetive

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24
Q

G-alpha-protein s function

A

Stimulate adenylate cyclase, increasing cAMP and activating PKA

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25
Q

G-alpha-protein i function

A

Inhibit adenylate cyclase, inhibiting cAMP

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26
Q

G-alpha-protein q function

A

Activate phospholipase C-beta, increasing IP3 and DAG which activate PKC

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27
Q

G-alpha-protein 12 function

A

Activate Rho proteins and regulates actin cytoskeleton, also activates Ras proteins

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28
Q

What protein does cholera toxin affect

A

G-alpha-s

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29
Q

What protein does diphtheria toxin affect

A

Elongation factor 2 (EF2)

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30
Q

What protein does pertussis toxin affect

A

G-alpha-i

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31
Q

What protein does botulinum C3 protein affect

A

G12 (Rho proteins)

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32
Q

What mutation leads to Li-Fraumeni syndrome

A

TP53

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33
Q

What mutation leads to Lynch syndrome

A

MLH1, MSH2, EPCAM

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34
Q

What mutation leads to Cowden syndrome

A

PTEN

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35
Q

What mutation leads to Peutz-Jeghers syndrome

A

SMAD4, BMPR1A

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36
Q

Function for gene BCR-ABL

A

Non-receptor tyrosine kinase

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37
Q

Function of JAK2

A

Non-receptor tyrosine kinase

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38
Q

Function of C-myc

A

Transcription factor

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39
Q

Function of Bcl-2

A

Anti-apoptic protein

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40
Q

Gain of function cancer associated with BCR-ABL

A

CML(t9:22/Philadephia)

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41
Q

Gain of function cancer associated with JAK2

A

Chronic myeloproliferative disorders

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42
Q

Gain of function cancer associated with C-myc

A

Burkitt lymphoma

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43
Q

Gain of function cancer associated with Bcl-2

A

Follicular lymphoma, diffuse large B cell lymphoma

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44
Q

Affected enzyme in Gaucher

A

Glucocerebrosidase

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45
Q

Affected enzyme in Fabry

A

Alpha-glactosidase A

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46
Q

Affected enzyme in Tay-Sachs

A

Hexosaminidase A

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47
Q

Affected enzyme in Krabbe

A

Galactocerebrosidase

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48
Q

Affected enzyme in metachromatic leukodystrophy (MLD)

A

Arylsulfatase A

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49
Q

Confirmatory test result for I-cell

A

Elevated lysosomes in blood (Inclusion bodies)

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50
Q

Confirmatory test result for Gaucher

A

Elevated chitotriosidase

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51
Q

Confirmatory test result for Fabry

A

Elevated globotriaosylceramide

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52
Q

Confirmatory test result for Tay-Sachs

A

Elevated GM2 gangliosides

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53
Q

Confirmatory test result for Niemann-Pick

A

Elevated sphingomyelin

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54
Q

Confirmatory test result for metachromatic leukodystrophy (MLD)

A

Elevated sulfatides

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55
Q

Confirmatory test result for Hunter

A

Elevated urinary glycosaminoglycan, absence of iruordonate-2-sulfatase

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56
Q

Symptoms of I-cell

A

Coarse facial features, developmental delay, skeletal abnormalities, restricted joint movement, enlarged liver and spleen

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57
Q

Symptoms of Gaucher

A

Enlarged liver and spleen, bone pain, fatigue, bruising and bleeding, lung disease, growth retardation

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58
Q

Symptoms of Niemann-Pick

A

Enlarged liver and spleen, neurological decline, ataxia, interstitial lung disease, feeding difficulties, failure to thrive

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59
Q

Symptoms of metachromatic leukodystrophy (MLD)

A

Progressive neurological decline, motor function loss, behavioral changes, seizures, peripheral neuropathy

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60
Q

Symptoms of Krabbe

A

Optic atrophy

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61
Q

Symptoms of Hunter

A

Aggressive behavior, hepatosplenomegaly differential: no corneal clouding

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62
Q

What is cytosine arabinoside

A

Inhibitor of DNA synthesis in S-Phase

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63
Q

What is a palindrome

A

Sequence of DNA that reads the same as the complimentary strand

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64
Q

What is the mechanism for BER

A

DNA glycosylases

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65
Q

What cell cycle stage is NER active

A

G1

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66
Q

Associated diseases of BER

A

Colorectal (MBD4) and gastric (NEIL1) cancers

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67
Q

Associated diseases of NER

A

Xermadosa pigmentosa

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68
Q

Associated diseases of MMR

A

Lynch syndrome

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69
Q

Associated diseases of HR

A

Fanconi anemia

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70
Q

Associated diseases of NHLJ

A

Ataxia Telangiectasia

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71
Q

Symptoms of fanconi anemia

A

Short stature, caf魡u-lait spots, thumb/forearm malformations

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72
Q

What cell cycle stage is HR active

A

Late S/G2

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73
Q

Cause of Prader-Willi

A

Loss of function of paternally expressed genes in the chromosome 15 (15q11-q13 )

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74
Q

Cause of Angelman

A

Loss of the maternal copy of chromosome 15q11 encoding the gene UBE3A (ubiquitin-protein ligase E3A)

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75
Q

Cause of Beckwith-Weidmann

A

Abnormal regulation of imprinted genes in the 11p15.5 region, often due to paternal uniparental disomy

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76
Q

Symptoms of Prader-Willi

A

Temper tantrums, stubbornness, compulsiveness); short stature, hypogonadism

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77
Q

Symptoms of Angelman

A

Ataxia, frequent laughing and smiling, widely spaced teeth and an abnormally flat back of the head are indicative of postnatal microcephaly

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78
Q

Symptoms of Beckwith-Weidmann

A

Macroglossia, neonatal hypoglycemia, hemi-hyperplasia

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79
Q

Source of insulin

A

Beta cells of the pancreas

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80
Q

Source of glucagon

A

Alpha cells of the pancrease

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81
Q

Source of epinephrine

A

Adrenal medulla

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82
Q

Source of cortisol

A

Adrenal cortex

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83
Q

Source of growth hormone

A

Anterior pituitary gland

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84
Q

Function of insulin

A

Lowers blood glucose by promoting anabolic processes

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85
Q

Function of glucagon

A

Raises blood glucose by promoting catabolic processes

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86
Q

Function of epinephrine

A

Increases blood glucose and free fatty acids during stress

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87
Q

Function of cortisol

A

Maintains blood glucose levels during prolonged stress

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88
Q

Function of growth hormone

A

Promotes growth and metabolism

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89
Q

Activation of insulin

A

Released in response to high blood glucose levels (fed state)

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90
Q

Activation of glucagon

A

Released in response to low blood glucose levels (fasted state)

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91
Q

Activation of epinephrine

A

Released in response to stress or low blood glucose

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92
Q

Activation of cortisol

A

Released in response to stress (hypoglycemia)

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93
Q

Activation of growth hormone

A

Released in response to hypoglycemia, exercise, and stress

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94
Q

Effects on metabolism for insulin

A

Promotes: Glucose uptake, Glycogenesis, Lipogenesis, Protein synthesis. Inhibits: Glycogenolysis, Gluconeogenesis, Lipolysis

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95
Q

Effects on metabolism for glucagon

A

Promotes: Glycogenolysis, Gluconeogenesis, Ketogenesis. - Inhibits: Glycogenesis, Lipogenesis

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96
Q

Effects on metabolism for epinephrine

A

Promotes: Glycogenolysis, Lipolysis. - Inhibits: Insulin secretion

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97
Q

Effects on metabolism for cortisol

A

Promotes: Gluconeogenesis, Proteolysis, Lipolysis. - Inhibits: Insulin effects on glucose uptake (in peripheral tissues)

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98
Q

Effects on metabolism for growth hormone

A

Promotes: Lipolysis, Gluconeogenesis. - Reduces: Glucose uptake in tissues (insulin antagonism)

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99
Q

What hormones activate adenylyl cyclase

A

Epinephrine, Glucagon

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100
Q

What hormones increase cAMP

A

Epinephrine, Glucagon

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101
Q

What hormones activate PKA

A

Epinephrine, Glucagon

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102
Q

What hormones activate hormone sensitive lipase (HPL)

A

Epinephrine, Glucagon

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103
Q

Epinephrine primary effect on adipocytes

A

Lipolysis: Breakdown of triglycerides into free fatty acids and glycerol

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104
Q

Glucagon primary effect on adipocytes

A

Lipolysis: Breakdown of triglycerides into free fatty acids and glycerol

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105
Q

Secondary effects of epinephrine

A

Promotes gluconeogenesis, glycogen breakdown (glycogenolysis; Activation of cAMP, PKA in turn activates glycogen phosphorylase, a rate-limiting enzyme)

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106
Q

Secondary effects of glucagon

A

Promotes gluconeogenesis (increased PKA
decreases fructose-2,6-bisphosphate and
activates fructose-1,6-bisphosphatse) and
glycogenolysis in the liver

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107
Q

What effect does caffeine have on metabolism

A

Inhibits cAMP phosphodiesterase. By inhibiting cAMP-PDE, it activates PKA and enhances glucagon or epinephrine responses.

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108
Q

What diabetes type is prone to ketoacidosis and why

A

Type 1, due to inadequate insulin treatment

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109
Q

Symptoms of ketoacidosis

A

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.

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110
Q

Steps of glycolysis that consume energy

A

1-hexokinase, 3-PFK-1

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111
Q

Steps of glycolysis that release energy

A

6-glyceraldehyde-3-phosphate dehydrogenase, 7-phosphoglycerate kinase, 10-pyruvate kinase

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112
Q

First and last compound in PPP/HMP Shunt

A

Glucose-6-phosphate, ribose-5-phosphate

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113
Q

Important enzymes in MRPathway

A

Glyceraldehyde-3-phosphate dehydrogenase, Cyst b5 reductase

114
Q

Enzymes and substrate in LR Shunt

A

[Bisphosphoglycerate mutase] 2,3 BPG [Bisphosphoglycerate phosphatase]

115
Q

What enzyme deficiency presents as hereditary hemolytic anemia, reduced ATP, and increased 2,3 BPG

A

Pyruvate kinase

116
Q

Important enzyme of PPP/HMP Shunt

A

G6PD

117
Q

What deficiency presents as hemolytic anemia, Heinz bodies, prolonged neonatal jaundice, and decreased levels of NADPH and pentose sugars

A

G6PD

118
Q

What disease does G6PD deficiency protect against

A

Malaria

119
Q

What is the importance of DHAP

A

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
Q

What is the importance of pyruvate carboxylase

A

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
Q

What can pyruvate carboxylase deficiency cause

A

The deficiency of this enzyme also cause decrease in the citrate, aspartate and phosphoenolpyruvate levels as these
compounds are formed from the oxaloacetate.

122
Q

What is the treatment for arsenic poisoning

A

Arsenic cheleating agents (dimercaprol)

123
Q

What B vitamins are cofactors for pyruvate dehydrogenase (4)

A

B1 (thiamin)
B2 (riboflavin)
B3 (niacin)
B5 (pantothenate)

124
Q

Is PDH a TCA enzyme

A

No

125
Q

What B vitamins are cofactors for alpha-ketogluterate dehydrogenase (4)

A

B1 (thiamin)
B2 (riboflavin)
B3 (niacin)
B5 (pantothenate)

126
Q

What B vitamins are cofactors for succinate dehydrogenase

A

B2 (riboflavin)

127
Q

Where is SDH located

A

Mitochondrial membrane (Complex II)

128
Q

What disease is associated with B1 deficiency

A

Werneike-Karsacoff encephalopathy

129
Q

Symptoms of Werneike-Korsacoff (3)

A

Lactic acidosis
Neurological disturbances
Paralysis
Atrophy of limbs
Cardiac failure

130
Q

What disease is associated with SDH deficiency

A

Leigh syndrome

131
Q

Symptoms of SDH deficiency (3)

A

Leigh syndrome
Hypertrophic cardiomyopathy
Muscle weakness
Cerebral ataxia
Optic atrophy

132
Q

Symptoms of fumrase gene deficiency (5)

A

Abnormally small head size
Abnormal brain structure
Developmental delay
Weak muscle tone
Face frontal bossing
Depressed nasal bridge
Widely spaced eyes

133
Q

Symptoms of succinyl-CoA synthetase deficiency (2)

A

Cephalomyopathy
Developmental delay
Dystonia
Lactic acidosis

134
Q

What is affected by succinyl-CoA synthetase deficiency

A

SCA and glycine cannot form aminolevulinic acid (heme synthesis). TCA is also interrupted as SCA is intermediate generated by alpha-ketogluterate

135
Q

What molecule is created by SDH

A

FADH2

136
Q

Inhibitor of ETC Complex I (NADH Oxidoreductase)

A

Rotenone

137
Q

Inhibitor of ETC Complex II (Succinate Dehydrogenase)

A

Malonate

138
Q

Inhibitor of ETC Complex III (Ubiquinone-Cytchrome C Oxidoreductase)

A

Antimycin A

139
Q

Inhibitor of ETC Complex IV (Cytochrome-C Oxidase)

A

Cyanide

140
Q

Inhibitor of ETC ATP Synthase

A

Oligomycin

141
Q

MOA of 2,4-DNP

A

Protonophore that carries protons across the inner mitochondrial membrane, dissipating the proton gradient and uncoupling oxidative phosphorylation, and heat production

142
Q

MOA of UPC’s

A

Proteins (e.g., UCP1, UCP2, UCP3) that allow protons to re-enter the mitochondrial matrix without producing ATP, leading to heat generation (thermogenesis)

143
Q

How is UPC1 unique

A

It is involved in non-shivering thermogenesis in brown adipose tissue

144
Q

Rate-limiting step of gluconeogenesis

A

Fructose-1,6-bisphosphatase

145
Q

Is G6PD to glucose reversible

A

No

146
Q

Rate-limiting step of glycogen synthesis

A

Glycogen synthase (UDP-Glucose to glycogen)

147
Q

Rate-limiting step of glycogenolysis

A

Glycogen phosphorylase (G1P from glycogen)

148
Q

Regulation of glycogen synthesis

A

Insulin activates glycogen synthase and inhibits glycogen phosphorylase. G6PD is allosteric activator

149
Q

Hormones that regulate glycogenolysis

A

Glucagon and epinephrine activate glycogen phosphorylase and inhibit glycogen synthase. Insulin inhibits

150
Q

Enzyme deficient in GSD Type 1 (von Gierke)

A

Glucose-6-phosphatase

151
Q

Enzyme deficient in GSD Type 2 (Pompe)

A

Lysosomal alpha-1,4-glucosidease

152
Q

Enzyme deficient in GSD Type 3 (Cori/Forbes)

A

Debranching enzyme (alpha-1,6-glucosidase)

153
Q

Enzyme deficient in GSD Type 5 (McArdle)

A

Muslce glycogen phosphorylase

154
Q

Function of glucose-6-phosphatase

A

G6P to glucose in the liver

155
Q

Fuction of lysosomal alpha-1,4-glucosidease

A

Glycogen storage in myocytes

156
Q

What accumulates in GSD Type III (Cori/Forbes)

A

Limit dextrin-like structures

157
Q

Symptoms of GSD Type I (von Gierke) (7)

A

Severe fasting hypoglycemia
Renomegaly
Hepatomegaly
Lactic acidosis
Hyperuricemia
Hyperlipidemia (doll-like face)
Failure to thrive
Thin limbs
Distended abdomen

158
Q

Symptoms of GSD Type II (Pompe) (1)

A

Enlarged tongue
Hypotonia
Hypertrophic cardiomyopathy

159
Q

Symptoms of GSD Type III (Cori/Forbes) (4)

A

Milder form of Von Gierke
Hepatomegaly
Hypoglycemia
Hypotonia
Cardiomyopathy
Blood lactate levels are normal
Functional gluconeogenesis

160
Q

Symptoms of GSD Type V (McArdle) (2)

A

Myoglobinuria with strenuous exercise
Second wind phenomenon
Cardiac arrythmias
No change in blood glucose

161
Q

Cofactors for Acetyl-CoA Carboxylase

A

ATP, Biotin, CO2

162
Q

What hormone activates Acetyl-CoA Carboxylase

A

Insulin

163
Q

What is an allosteric activator of Acetyl-CoA Carboxylase

A

Citrate

164
Q

What is the lipid transporter for endogenous lipids

A

VLDL

165
Q

What is the lipid transporter for exogenous lipids

A

Chylomicron

166
Q

What increases chylomicronmediated transport of dietary lipids

A

Increase in triglycerides

167
Q

What enxymes are biotin a cofactor for (2)

A

Acetyl CoA carboxylase (to malonyl CoA in step 1 FA synthesis)
Pyruvate carboxylase (pyruvate to oxaloacetate in gluconeogenesis)

168
Q

Function of HMG-CoA reductase

A

HMG-CoA to mevalonate in cholesterol synthesis

169
Q

Cholesterol is precursor for (3)

A

Bile acids
Membrane fluidity
Steroid hormone synthesis

170
Q

What is the effect of statins

A

Inhibit HMG-CoA reductase, which reduces LDL, inflammation, and stabilizes arteriol plaques

171
Q

Key enzymes of beta-oxidation (4)

A

Acyl-CoA dehydrogenase (dehydrogenation)
Enoyl-CoA hydratase (hydration)
Beta-Hydroxyacyl-CoA dehydrogenase (oxidation)
Acyl-CoA acetyltransferase (thiolysis)

172
Q

What proves disruption of beta oxidation (3)

A

Increased acyl-carnitine
Decreased beta-hydroxybutyrate
Hypoglycemia
Decreased ketogenesis
Muscle weakness

173
Q

Disease associated with alpha oxidation

A

Resfum’s disease

174
Q

Deficient enzyme in Resfum’s disease

A

Phytanoyl-CoA Hydroxylase

175
Q

Accumulated substance in Resfum’s disease

A

Phytanic acid

176
Q

Symptoms of Resfum’s disease (4)

A

Neuropathy (peripheral nerve damage)
Retinitis pigmentosa (vision loss)
Ataxia
Hearing loss
Scaly skin (ichthyosis)
Cardiac arrhythmia

177
Q

Diseases associated with beta-oxidation (3)

A

MCAD deficiency
CPT I deficiency
CPT II deficiency

178
Q

Deficient enzyme in MCAD deficiency

A

Medium-Chain Acyl-CoA Dehydrogenase

179
Q

Deficient enzyme in CPT I deficiency

A

Carnitine Palmitoyltransferase I (CPT I)

180
Q

Deficient enzyme in CPT II deficiency

A

Carnitine Palmitoyltransferase II (CPT II)

181
Q

Accumulated substance in MCAD deficiency

A

Medium-chain fatty acids (c8-c10 acyl-carnitines)

182
Q

Accumulated substance in CPT I deficiency

A

Long-chain fatty acids

183
Q

Accumulated substance in CPT II deficiency (2)

A

Long-chain fatty acids
Acyl carnitines

184
Q

Symptoms of MCAD deficiency (4)

A

Hypoglycemia (especially during fasting, no ketone bodies)
Vomiting
Lethargy
Seizures
Sudden death in severe cases

185
Q

Symptoms of CPT I deficiency (2)

A

Hypoketotic hypoglycemia
Liver dysfunction
Muscle weakness triggered by fasting or illness

186
Q

Symptoms of CPT II deficiency (3)

A

Muscle pain and stiffness
Myoglobinuria (dark urine)
Increased serum creatine kinase
Muscle weakness
Rhabdomyolysis (severe muscle breakdown) triggered by prolonged exercise/fasting

187
Q

Enzymes that detoxify ammonia (4)

A

Aminotransferases (Transaminases)
Ornithine transcarbamylase (OTC)
Argininosuccinate synthetase (ASS)
Arginase

188
Q

Function of aminotransferases/transaminases

A

Catalyze the transfer of amino groups from amino acids to alpha-keto acids

189
Q

Function of ornithine transcarbamylase (OTC)

A

Converts carbamoyl phosphate and ornithine into citrulline

190
Q

Function of argininosuccinate synthetase (ASS)

A

Forms argininosuccinate from citrulline and aspartate

191
Q

Function of arginase

A

Hydrolyzes arginine to produce urea and regenerate ornithine, completing the urea cycle

192
Q

Key metabolites of aminotransferases/transaminases

A

Aspartate (AST), Alanine (ALT), (liver problem markers)

193
Q

Key metabolites of ornithine transcarbamylase (OTC)

A

Citrulline, Carbamoyl Phosphate, Ornithine

194
Q

Key metabolites of argininosuccinate synthetase (ASS)

A

Citrulline, Aspartate

195
Q

Key metabolites of arginase

A

Arginine

196
Q

Associated diseases of aminotransferases/transaminases

A

Liver diseases (e.g., hepatitis, cirrhosis) indicated by elevated AST/ALT levels

197
Q

Associated diseases of ornithine transcarbamylase (OTC)

A

Leads to hyperammonemia, Increased orotic acid to creatine ratio, No urinary ketone, decreased citrulline, increased ornithine

198
Q

Associated diseases of arginase

A

Argininemia (arginase deficiency leads to hyperammonemia, spasticity, growth delay)

199
Q

Pathogenesis of dyslipidemia type I (Hyperchylomicronemia)

A

Lipoprotein lipase

200
Q

Pathogenesis of dyslipidemia type II (Hypercholesterolemia)

A

Lack of/defect in LDL receptor

201
Q

Pathogenesis of dyslipidemia type III (Dysbetalipoproteinemia)

A

ApoE

202
Q

Pathogenesis of dyslipidemia type IV (Hypertriglyceridemia)

A

VLDL overproduction

203
Q

Symptoms of dyslipidemia type I (Hyperchylomicronemia)

A

Recurrent Pancreatitis, hepatosplenomegaly, eruptive xanthomas, creamy layer in supernatant of blood after centrifugation

204
Q

Symptoms of dyslipidemia type II (Hypercholesterolemia)

A

Accelerated atherosclerosis (young age), achilles xanthomas, corneal arcus

205
Q

Symptoms of dyslipidemia type III (Dysbetalipoproteinemia)

A

Premature atherosclerosis, tuberoeruptive and palmar xanthomas

206
Q

Symptoms of dyslipidemia type IV (Hypertriglyceridemia)

A

Hypertriglyceridemia (> 1000 mg/dL) can cause acute pancreatitis. Related to insulin resistance

207
Q

Pathology of tangier disease

A

ABCA1 mutation

208
Q

Symtpoms of tangier disease (2)

A

Accelerated atherosclerosis
Coronary and carotid artery stenosis
Distal muscle weakness
Peripheral axonal neuropathy
Hepatosplenomegaly
Orange discolored tonsils

209
Q

Function of phenylalanine hydroxylase (PAH)

A

Phenylalanine to tyrosine

210
Q

Function of cystathionine beta-synthase (CBS)

A

Homocysteine + serine to cystathionine

211
Q

Function of branched-chain aminotrnasferase

A

Leucine, isoleucine, valine to alpha-keto acids

212
Q

Function of aspartate aminotranferase (2)

A

Aspartate to oxaloacetate and glutamate to alpha-ketogluterate

213
Q

Associated disease of phenylalanine hydroxylase (PAH)

A

Phenylketonuria (Seizures, musty odor in breath, eczema, pale skin, light blue eyes, developmental delay) musty odor in the breath, skin, urine

214
Q

Associated disease of cystathionine beta-synthase (CBS)

A

Homocystinuria (can be treated with pyridoxine,
folate, cobalamin)

215
Q

Associated disease of branched-chain aminotransferase

A

Maple Syrup Urine Disease (sweet smelling urine; poor feeding, vomiting, hypotonia)

216
Q

Associated disease of aspartate aminotranferase

A

Liver diseases (e.g., hepatitis, cirrhosis)

217
Q

What deficiency causes Lesch-Nhyan

A

Hypoxanthine-guanine phosphoribosyltransferase (HGPRT) gene

218
Q

Function of HGPRT

A

Purine salvage. Converts guanine to GMP and hypoxanthine to IMP

219
Q

Confirmatory results of Lesch-Nhyan (3)

A

Increase in purine catabolism, PRPP, uric acid

220
Q

Increase in uric acid causes

A

Gout

221
Q

What drug prevents gout

A

Allopurinol by inhibiting xanthine oxidase from converting hypoxanthine to xanthine and xanthine to uric acid. Increases xanthine and hypoxanthine in urine

222
Q

What causes orotic aciduria

A

Defect in uridine-5-phosphate synthase (converts orotic acid to UMP)

223
Q

Symptoms of orotic aciduria (3)

A

Excessive orotic acid in urine
Growth retardation
Anemia

224
Q

Drug that treats orotic aciduria

A

Uridine

225
Q

Cofactors for ribonucleotide dehydrogenase(reductase) (2)

A

Thioredoxin, B12

226
Q

What is hydroxyurea (hydroxycarbamide)

A

Only FDA approved drug for ribonucleotide reductase inhibitor. Used for sickle cell anemia, CML, thrombocythemia, polycythemia vera

227
Q

What is used for lymphomas and chromic myelocytic leukemia (CML)

A

Fludarabine phosphate

228
Q

Gemcitabine is used for (5)

A

Pancreatic, ovarian, bladder and lung cancer, and non-Hodgkins lymphoma

229
Q

ALAS I is located in

A

Liver

230
Q

ALAS II is located in

A

Erythrocytes

231
Q

What effect do barbiturates have on the heme pathway

A

Induces ALAS I to increase P450

232
Q

What causes Gilbert’s syndrome

A

Mutated UGT1A1

233
Q

What causes Crigler-Najjar syndrome

A

Mutated UGT1A1 - uridine diphosphate glucuronosyltransferase

234
Q

Difference between type 1 and type 2 of Crigler-Najjar syndrome

A

Type 1 has kernicterus (brain damage)
Type 2 does not

235
Q

What increases methemoglobin (3)

A

Drugs
Endogenous agents
Deficiency in NADH-Cytochrome b5 reductase

236
Q

What erythropoiesis condtion causes a decrease in erythropoiesis

A

CKD

237
Q

Mechanism for hypoxia

A

HIF-a interacts with HIF-b to transcriptionally activate erythropoiesis

238
Q

Mechanism for CKD

A

Oxidative stress causes methylation of HRE (epigenetic changes)

239
Q

Mechanism for polycythemia vera

A

JAK2 GoF leads to abnormal bone marrow differentiation

240
Q

When are RBC 2,3-BPG levels low

A

Hexokinase deficiency

241
Q

When are RBC 2,3-BPG levels high

A

Pyruvate kinase deficiency

242
Q

Cherry red blood indicates

A

Carboxyhemoglobin (CO poisoning)

243
Q

Chocolate brown blood indicates

A

Methemoglobin (treat with methylene blue)

244
Q

Difference between beta-thalassemia minor and major

A

Minor has HbA/HbA2
Major has HbA/HbF/HbA2

245
Q

Difference between sickle-cell trait and sickle cell anemia

A

Sickle-cell trait has HbA/HbS/HbA2
Anemia has HbF/HbS/HbA2

246
Q

What mediates platelet adhession

A

GP1b-GPIX-GPV receptor

247
Q

What is required for fibrin-induced platelet aggregation

A

GPIIb-GPIIIa receptor activation

248
Q

What causes a decrease in factor VIII

A

vWF deficiency

249
Q

Where is tissue factor (TF/thromboplastin/factor III) released from (3)

A

Various tissue
Damaged cells
Platelets

250
Q

Where are calcium ions (factor IV) released from

A

Plasma

251
Q

Where are anti-hemophillic factor (AHF/factor VIII) released from

A

Liver sinusoid endothelial cells (LSEC), not hepatocytes

252
Q

Where are plasma thromboplastin component (PTC) released from

A

Liver (Vitamin K required for release)

253
Q

Function of factor III

A

Activates extrinsic coagulation pathway

254
Q

Function of factor IV

A

Most of the steps in coagulation pathway requires calcium

255
Q

Pathway and deficiency of factor VIII

A

Intrinsic pathway
Deficiency leads to hemophilia A (X-linked recessive, males)

256
Q

Pathway and deficiency of factor IX

A

Intrinsic pathway
Deficiency leads to hemophilia B (X-linked recessive, males)

257
Q

What is protein C

A

Vitamin K dependent enzyme that degrades factors V and VIII

258
Q

What does heparin activate

A

Antithrombin III (thrombin inhibitor)

259
Q

What does thrombin activate (3)

A

Factors VIII and V, converts fibrinogen to fibrin

260
Q

Associated diseases to calciferol (Vit D) deficiency (2)

A

Ricketts (kids)
Osteomalacia (adults)

261
Q

Symptoms of calciferol deficiency (5)

A

Muscle weakness
Brittle bones
Increased risk of bone fractures
Bowed legs
Short stature

262
Q

Functions of Vitamin K (2)

A

Mediates gamma-glutamate carboxylation and coagulation factors

263
Q

Symptoms of Vitamin K deficiency

A

Increase in PT and PTT

264
Q

What pathway is associated with PT

A

Extrinsic

265
Q

What pathway is associated with PPT

A

Intrinsic

266
Q

Symptoms of B1 deficiency (6)

A

Fatigue
Irritability
Confusion
Neurological problems
Abnormal eye movements
Ataxia

267
Q

Symptoms of B3 deficiency (3)

A

Dermatitis
Diarrhea
Dementia
Inflamed mucous membrane

268
Q

Disease associated with B3 deficiency

A

Pellagra

269
Q

Disease associated with B9 deficiency

A

Megaloblastic anemia

270
Q

Disease associated with B12 deficiency

A

Pernicious anemia

271
Q

Lab results of B9 deficiency

A

Elevated homocysteine

272
Q

Lab results of B12 deficiency (2)

A

Elevated homocysteine and methylmalonic acid

273
Q

What are the test results to confirm iron-deficiency

A

Serum iron, ferritin, and hemoglobin are decreased. This means serum transferrin saturation is decreased and TIBC is increased

274
Q

Gene mutation causing hereditary hemochromotosis type 1

A

HFE (HLA class I-like protein)

275
Q

Gene mutations causing hereditary hemochromotosis type 2 (2)

A

HJV (hemojuvelin) or HAMP (hepcidin)

276
Q

Symptoms of hereditary hemochromotosis type 1 (4)

A

Fatigue
Weakness
Joint pain (hands)
Hepatomegaly
Diabetes mellitus (“bronze diabetes”)
Skin hyperpigmentation
Hypogonadism
Cardiac arrhythmias
Cirrhosis
Risk of hepatocellular carcinoma

277
Q

Symptoms of hereditary hemochromotosis type 2 (4)

A

Severe iron overload at an early age
Hypogonadism (delayed puberty)
Cardiomyopathy
Joint pain
Arthritis
Liver disease (fibrosis, cirrhosis)
Diabetes mellitus
Hyperpigmentation

278
Q

Lab results of hereditary hemochromotosis type 1 (3)

A

Elevated serum ferritin
Elevated transferrin saturation
Genetic testing for HFE mutations (C282Y and H63D)

279
Q

Lab results of hereditary hemochromotosis type 2 (3)

A

Markedly elevated serum ferritin
Elevated transferrin saturation
Genetic testing for HJV or HAMP mutations

280
Q

What does methotrexate do

A

Inhibit dihydrofolate reductase

281
Q

What is methotrexate used for

A

Psoriasis, cancer, RA

Noorda FOM (18 decks)

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