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Step 1 Prep > Biochemistry > Flashcards

Biochemistry Flashcards

1
Q

Another name for a proteoglycan

A

Sugar backbone + protein

Mucopolysaccharide

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2
Q

A GAG consists of

A

Repeating disaccharide units of: acid sugar (glucuronic acid, iduronic acid) & amino sugar (glucosamine, galactosamine)

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3
Q

6 major groups of GAG include:

A
  1. CS #1 (cartilage, bone, heart valves)
  2. Hyaluronic acid (no sulfate, not covalently attached to proteins)
  3. KS
  4. DS
  5. Heparan Sulfate (negatively charged, acetylated glucosamine)
  6. Heparin (more sulfated than HS)
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4
Q

Cartilage consists of these GAGs (3)

A

CS, KS, hyaluronic acid

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5
Q

How is a GAG linked to a protein to form a proteoglycan?

A

Trihexoside linkage (gal-gal-xy) + serine

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6
Q

GAG’s are synthesized using what enzymes

A

Glycosyl transferases

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7
Q

Who is the sulfate donor when it comes to proteoglycan synthesis?

A

PAPS (with sulfrotransferase)

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8
Q

What is I cell disease?

A

Inability to transport hydrolytic enzymes to lysosomes 2/2 to inability to phosphorylate mannose

  • Skeletal abnormalities, psychomotor, no joint movement
  • Substances accumulate in lysosome; enzymes accumulate in plasma
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9
Q

O-glycosidic links in glycoproteins are made by…

A

OH- of serine/threonine

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10
Q

What are several examples of glycoproteins?

A

Cell surface receptors, blood group Ag, collagen, fibronectin

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11
Q

The pathogenesis of E. coli & H. pylori as it relates to glycoproteins

A

E. coli: mannose in plasma membrane

H. pylori: gastric epithelium

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12
Q

COPI vs COP2 cellular trafficking

What about clathrin?

A

COP1: retrograde: Golgi –> ER
COP2: anterograde: ER –> Golgi
Clathrin: Golgi –> Lysosomes; Plasma membrane –> Endosomes

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13
Q

What GAG can be injected into the joints of patients with osteoarthritis?

A

Hyaluronic acid

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14
Q

Fabry’s disease: deficient enzyme

A

Alpha-galactosidase

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15
Q

Gaucher’s disease: deficient enzyme

A

Glucocerebrosidase

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16
Q

Niemann-Pick disease: deficient enzyme

A

Sphingomyelinase

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17
Q

Tay-Sachs disease: deficient enzyme

A

Hexosaminidase A

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18
Q

Krabbe’s disease: deficient enzyme

A

Galactocerebrosidase

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19
Q

Metachromatic leukodystrophy: deficient enzyme

A

Aryl sulfatase

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20
Q

Hurler’s syndrome: deficient enzyme

A

Alpha-L-iduronidase

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21
Q

Hunter’s syndrome: deficient enzyme

A

Iduronate sulfatase

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22
Q

X-linked lysosomal storage disorders

A

Hunter’s, Fabry’s

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23
Q

Cherry-red spot macula lysosomal storage disorders

A

Tay-Sachs, Niemann-Pick (+HSM)

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24
Q

Corneal clouding lysosomal storage disorders

A

Hurler’s disease

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25
Q

Fabry’s disease: accumulated substrate

A

Ceramide trihexoside

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26
Q

Gaucher’s disease: accumulated substrate

A

Glucocerebroside

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27
Q

Niemann-Pick disease: accumulated substrate

A

Sphingomyelinase

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28
Q

Tay-Sachs disease: accumulated substrate

A

GM2 ganglioside

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29
Q

Krabbe’s disease: accumulated substrate

A

Galacrocerebroside

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30
Q

Metachromatic leukodystrophy: accumulated substrate

A

Cerebroside sulfate

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31
Q

Hunter’s disease & Hurler’s disease: accumulated substrate

A

Heparan and dermatan sulfate

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32
Q

Lysosomal storage disorder: peripheral neuropathy of hands/feet, angiokeratomas, CV/renal disease

A

Fabry’s disease

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33
Q

Lysosomal storage disorder: most common; HSM, aseptic necrosis femur, bone crises, macrophages that look like crumped tissue paper

A

Gaucher’s disease

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34
Q

Lysosomal storage disorder: Progressive neurodegeneration, HSM, cherry-red spot macula, foam cells

A

Niemann-Pick disease

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35
Q

Lysosomal storage disorder: progressive neurodegeneration, developmental delay, cherry-red spot macula, onion-skin lysosomes, no HSM

A

Tay-Sachs disease

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36
Q

Lysosomal storage disorder: peripheral neuropathy, developmental delay, optic atrophy, globoid cells

A

Krabbe’s disease

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37
Q

Lysosomal storage disorder: Central and peripheral demyelination with ataxia, dementia

A

Metachromatic leukodystrophy

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38
Q

Lysosomal storage disorder: developmental delay, gargoylism, airway obstruction, corneal clouding, HSM

A

Hurler’s syndrome

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39
Q

Lysosomal storage disorder: Aggressive behavior, no corneal clouding

A

Hunter’s syndrome

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40
Q

Regulation of heme synthesis in the liver vs. RBC (bone marrow). Be sure to name the isoforms of the regulatory enzyme.

A

Liver (ALAS1): stops with increased heme and hemin

RBC (ALAS2): availability of intracellular Fe

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41
Q

Heme in the liver is used to synthesize…

Whereas heme in the RBC is coupled to the synthesis of globin.

A

Cytochrome p450

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42
Q

Lead poisoning affects these 2 enzymes.

What accumulates?

A

ALA dehydratase & Ferrochelatase

Accumulation: ALA & Protoporphyrin

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43
Q

Presenting symptoms of lead poisoning

A

Microcytic anemia; GI/renal disease
Children: mental deterioration (paint)
Adults: headache, memory loss, demyelination (battery, ammunition, radiator factory)

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44
Q

Environmental exposure in battery/ammunition/radiator factory

A

Lead

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45
Q

Acute intermittent porphyria affects this enzyme.

What accumulates?

A

Prophobilinogen deaminase or HMB synthase

Accumulation: Porphobilinogen, ALA, uroporphyrin (urine)

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46
Q

Presenting symptoms of acute intermittent porphyria

A

Painful abdomen, port wine colored urine, polyneuropathy, psychological disturbance, precipitated by dugs

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47
Q

Treatment of acute intermittent porphyria

A

Glucose, heme (inhibit ALAS)

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48
Q

Deficiency of ALAS results in…

A

Sideroblastic anemia (X-linked)

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49
Q

Sideroblastic anemia inheritance

A

X-linked

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50
Q

Enzyme deficiency in porphyria cutanea tarda

A

Uroporphyrinohen decarboxylase

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51
Q

Accumulated substrate in porphyria cutanea tarda

A

Uroporphyrin (tea-colored urine)

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52
Q

Signs and symptoms of porphria cutanea tarda

A

Blistering cutaneous photosensitivity (most common)

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53
Q

Which enzymes in heme synthesis are mitochondrial?

A

ALAS (RLS), Ferrochelatase

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54
Q

Enzyme affected in congenital erythropoietic porphyria

A

Uroporphyrinogen cosynthase

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55
Q

The first 2 enzymatic steps in the breakdown of heme

A
  1. Heme oxygenase (requires Fe2+, NADPH); gives off CO

2. Biliverdin reductase (NADPH)

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56
Q

Biliverdin color is…

Bilirubin color is…

A

Green

Orange/Yellow

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57
Q

What is the underlying reason for why people turn yellow in jaundice?

A

Pigment deposition in connective tissue

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58
Q

2 drugs which can induce kernicterus

A
  1. Salciylates

2. Sulfonamides

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59
Q

Which drug can induce the enzyme UDP glucournyl transferase (bilirubin metabolism)?

A

Phenobarbital

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60
Q

Rank the severity of: Crigler-Najjar 1, 2, Gilbert’s

A

Most severe: CN 1

Least severe: Gilbert’s

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61
Q

A defect in the ABC transporter with respect to bilirubin metabolism results in…

A

Dubin-Johnson Syndrome

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62
Q

What is the rationale for light therapy in newborn jaundice?

A

Can make bilirubin into a more polar compound for excretion (without enzymatic activity)

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63
Q

After bilirubin is deposited in the large intestine, it is de-conjugated to…

A

Urobilinogen –> stercobilin (feces)

*10% reabsorbed into portal blood –> urine (urobilin)

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64
Q

Four major alpha-1 serum proteins

A
  1. A1AT
  2. AFP
  3. Transcortin
  4. Retinol binding protein
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65
Q

AFP is increased/decreased with Down Syndrome and increased/decreased with NTD

A

Decreased in Down

Increased in NTD

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66
Q

Alkalosis can lead to hypocalcemia because…

A

Albumin becomes more negative and hence binds more Calcium

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67
Q

Three major alpha-2 serum proteins

A
  1. Alpha-2 macroglobulin
  2. Cerruloplasmin
  3. Haptoglobin
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68
Q

Three major beta serum proteins

A
  1. Transferrin
  2. Hemopexin
  3. LDL (beta lipoprotein)
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69
Q

Aside from storage of copper, cerruloplasmin has this type of activity on iron.

A

Ferroxidase activity: Fe2+ to 3+

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70
Q

Haptoglobin binds

Hemopexin binds

A

Hapto: Free Hb
Hemo: Free heme

71
Q

Which clotting factors are synthesized by the liver?

A

5, 7, 9, 10, PT, fibrinogen

72
Q

With ETOH usage: increased/decreased

  1. Beta oxidation
  2. FAS
  3. VLDL
A
  1. Decreased beta-oxidation with inc. NADH
  2. Increased FAS with inc. acetyl coA
  3. Decreased VLDL
73
Q

In prolonged starvation, the protein sparing effect is observed. Explain.

A

Brain can use ketone bodies to generate glucose without breaking down muscle protein.

74
Q

Where in the hepatocyte does ketogenesis occur?

A

Mitochondria

75
Q

What is the fate of acetoacetate, beta-hydroxybutyrate and acetone?

A

Reconverted to acetyl coA –> TCA cycle

76
Q

In order to form ketone bodies, is there a high or low NADH:NAD ratio?

A

High

77
Q

Hormone sensitive lipase is stimulated/inhibited by insulin

A

Inhibited by insulin; stimulated by epinepherine.

*Active = phosphorylated

78
Q

What enzybe converts acetoacetate to acetoacetyl coA in ketone body utilization?

A

Thiophorase

79
Q

Can the brain use FFA’s?

A

No

80
Q

What are the steps in making acetyl coA from fatty acids? Describe the location of each step.

A
  1. FA –> Fatty acyl coA [fatty acyl coA synthase] (cytosol)
  2. Fatty acyl coA –> CPT-1 –> acyl carnitine (outer MM)
  3. Acyl carnitine –> translocase –> acyl carnitine (inner MM)
  4. Acetyl coA (CPT2) inner MM
81
Q

CPT-1 is inhibited by what enzyme?

A

Malonyl coA

82
Q

Beta-oxidation of fatty acid steps

A
  1. Oxidation (MCAD) – FAD
  2. Add water
  3. Oxidation – NAD
  4. Cleavage
83
Q

Each cycle of beta-oxidation produces how much acetyl coA, FADH and NADH

A

2, 1, 1

84
Q

The number one AR enzyme deficiency (think beta-oxidation)

A

MCAD: dibarboxylic acids in urine, CK-MM, severe fasting hypoglycemia, hypoketonemia

85
Q

Primary carnitine deficiency, CPT-1, CPT-2

A

Cannot oxidize long chain fatty acids
CPT-1: liver: systemic early presentation
CPT-2: muscle: cardiomyopathy later presentation

86
Q

Jamaican vomiting sickness

A

Ackee fruit: hypoglycemia and vomiting; inhibits MCAD

87
Q

Odd chain fatty acids are metablolized in this pathway

A

Propionyl coA -biotin-> MM CoA -B12-> Succs CoA

88
Q

VLCFA are metabolized in this organelle. What syndrome is associated with a defective biogenesis of this organelle?

A

Peroxisome; Zellweger syndrome

89
Q

Differentiate between alpha and omega oxidation of FA’s. Name a disease associated with alpha oxidation?

A

Alpha: Branched chain FA’s [phytanic acid from dairy in the peroxisome; cannot metabolize in Refsum disease]
Omega: alternative pathway when beta- isn’t active; results in increased dicarboxylic acids in the urine.

90
Q

Refsum disease

A

Alpha oxidation defect; cannot metabolize branched chain fatty acids

91
Q

Describe the trinucleotide repeat expansion diseases.

A

X-Girlfriends First Aid Helped Ace My Test

Fragile X: CGG
Fred Ataxia: GAA
Huntington: CAG
Myotonic dystrophy: CTG

92
Q

Short term regulation of fatty acid synthesis

A

Activate: Citrate polymerized
Inactivate: Palmityl coA monomers (LCFA)

93
Q

RLS of FAS

A

Acetyl CoA Carboxylase

94
Q

The enzyme FAS is active as a monomer or dimer

A

Dimer

95
Q

Treatment of ethylene glycol or methylene poisoning

A
  1. Alcohol

2. Fomepizole (compet inhibitor of alcohol dh)

96
Q

Methanol is oxidized to…

A

Formaldehyde; leads to mental and visual disturbances [irreversible blindness]

97
Q

Ethylene glycol is found in antifrereze. Ingestion can lead to…

A

Calcium oxalate stones and renal failure

98
Q

Which cytochrome enzyme metabolizes alcohol?

A

CYP2E1

99
Q

Differentiate between acetaldehyde DH1 & DH2

A

DH1: cytosol, higher Km
DH2: mitochondria, lower Km

100
Q

Differentiate between phase I and phase II metabolism in the liver.

A

Phase I: CYP450

Phase II: Conjugation, UDP, PAPS, glutathione

101
Q

What is the consequence of alcohol poisoning?

A

Very high levels of cytosolic NADH prevent GNG, pyruvate generation (from lactate).

102
Q

How are fatty acids transported in the blood?

A

Bound to albumin

103
Q

The formation of 3-beta-hydroxybutyrate uses/forms NADH; whereas the utilization of 3-betahydroxybutyrate uses/forms NADH

A

Uses; Forms

104
Q

Why cannot the liver use ketone bodies?

A

It lacks thiophorase (succinyl CoA acetoacetate CoA transferase)

105
Q

In addition to the liver, where is GNG performed in prolonged fasting?

A

Kidney

106
Q

With respect to a fast, the metabolic fuels present at the beginning of a fast, which stores are the highest: sugar, fat, protein?

A

Fat

107
Q

When are liver glycogen stores depleted during a fast?

A

1 day

108
Q

Protein energy malnutrition leads to variable clinical conditions with extreme forms. What are the 2 major forms?

A
  1. Marasmus: protein-calorie; energy deficiency is predominant
  2. Kwashiorkor: protein is predominant
109
Q

When children look severely starved and show less than 80% of standard weight they have:

A

Marasumus

110
Q

B1 deficiency

A

Beri-Beri

111
Q

B2 deficiency

A

Cheilosis (B2)

112
Q

B3 deficiency

A

Pellagra (Niacin)

113
Q

Vitamin C deficiency

A

Scurvy

114
Q

Microcytic anemia can develop with Fe, and what other element and vitamin?

A

B6, Cu

115
Q

Reduced response to infections can result from a deficiency of what elements?

A

Fe, Se, Zn

116
Q

Poor wound healing can result from a deficiency of what element?

A

Zn

117
Q

Night blindness can result from a deficiency of what vitamin?

A

Vitamin A

118
Q

The fat soluble vitamins.

A

A, D, E, K

119
Q

What are the formal names for:

Vitamin B1, B2, B3, B5, B6, B7 B9, B12; Vitamin C

A 
B1: Thiamine
B2: Riboflavin
B3: Niacin
B5: Pantothenic acid (CoA)
B6: Pyridoxine
B7: Biotin
B9: Folate
B12: Cobalamin
C: Ascorbic acid
120
Q

The transport and storage form of vitamin A

A

Retinol

121
Q

Hypervitamintosis A

A

Headaches (can mimic brain tumors), dry & pruritic skin, enlarged liver, can cause spontaneous abortions

122
Q

Should vitamin A supplements be given in pregnancy?

A

No

123
Q

Differentiate between vitamin D2 & D3

A

D2: plants: ergocalciferol
D3: animals: cholecalciferol

124
Q

What is the precursor for cholecalciferol synthesis in the skin?

A

7-dehydrocholesterol

125
Q

What is the sequence of events in calcitriol synthesis?

A

7-DH cholesterol –> Cholecalciferol –> 25 –> 1

126
Q

Bow-legged deformity, rachitic rosary, pigeon chest deformity, frontal bossing

A

Vitamin D deficiency

127
Q

The most important role of vitamin E

A

Anti-oxidant: prevents peroxidation of lipids; scavenges free radicals

128
Q

Deficiency of vitamin E manifests as

A

Hemolytic anemia (abnormal cell membrane); reduced DTR & gait problems 2/2 axonal degeneration

129
Q

The most serious complication of hemorrhagic disease of the newborn.

A

Intracranial bleeding

130
Q

Name 2 mechanisms of vitamin K deficiency in adults

A
  1. Fat malabsorption

2. Broad spectrum antibiotics

131
Q

What vitamin acts as a coenzyme for the hydroxylation of proline and lysine in collagen?

A

Vitamin C

132
Q

What vitamin is required for the absorption of Fe?

A

Vitamin C

133
Q

The 2 vitamin deficiencies that can result in very similar clinical picture of perifollicular hemorrhages, bleeding, etc.

A

Vitamin K

Vitamin C

134
Q

Functions of B1

A

PDH, A-ketogluterate DH, branched chain alpha-keto acid DH

* transketolase (PPP)

135
Q

Co-enzyme for transketolase in PPP

A

B1

136
Q

Wet vs. Dry beri-beri

A

Wet: CV
Dry: polyneuropathy

137
Q

What vitamin deficiency is common when polished rice is the major diet component?

A

Thiamine (B1)

138
Q

Vitamin B2 pariticpates in what types of reactions

A

FAD (Oxidation/Reduction)

139
Q

Riboflavin deficiency results in…

A

Cheilosis, glossitis, facial dermatitis

140
Q

Niacin can be used therapeutically for Type 2B hyperlipoproteinemia because

A

It inhibits HSL

141
Q

Niacin deficiency results in…

A

The 3 D’s:
Dermatitis (exposed areas of body – necklace like), Diarrhea, Dementia (degeneration of neurons in brain and spinal tracts), Death

142
Q

Which amino acid can be used to synthesize NAD?

A

Tryptophan

143
Q

Corn based diets can cause…

A

Pellagra

144
Q

Patients with Hartnup’s disease and carcinoid syndrome may p/w

A

Pellagra

145
Q

Biotin, or B7, is the prosthetic group for most… reactions (name the type of reaction)

A

Carboxylation

146
Q

Multiple carboxylase deficiency results from a deficiency of what vitamin?

A

Biotin

Pyruvate carboxylase, Acetyl-coA carboxylase, propionyl coA carboxylase

147
Q

A patient who ingests a very large amount of egg whites will p/w a deficiency of what vitamin? Why

A

Biotin; avidin inhibits absorption of biotin

148
Q

Reactions using vitamin B6

A

Transamination, AA decarboxylation (synthesis of NT), condendation (ALAS in heme synthesis), conversion of homocysteine to cystein

149
Q

Children with homocystinuria can respond to dietary supplementation of what vitamin?

A

B6

150
Q

S/S of pyridoxine deficiency

A

Microcytic anemia, peripheral neuropathy, increased risk of CV dz (2/2 plasma homocysteine), seizures

151
Q

T/F Because B12 is only synthesized by microorganisms, not present in plants, vegans have a high risk of deficiency

A

True

152
Q

Deficiency of what element: Muscle weakness, neurologic defects, hypopigmentation, abnormal collagen cross-linking

A

Cu

153
Q

Deficiency of what element: Acrodermatitis enteropathica, growth retardation, infertility

A

Zn

154
Q

Important co-factor for: cytochrome c, SOD, lysyl oxidase, tyrosinase, dopamine beta-hydroxylase

A

NT synthesis

155
Q

Kinky hairy syndrome

A

Copper deficiency; inherited defect in copper absorption from the GIT (X-linked)

156
Q

Gene for Wilson disease is located on chromosome

A

13

157
Q

Essential fructosuria vs. Hereditary fructose intolerance

A

Essential: fructokinase (benign)
Hereditary: F-1-P [aldose b]

158
Q

Describe the role of aldose reductase

A

Aldose reductase converts glucose and galactose to sorbitol and galacitol, respectively; lens/cataracts lack sorbital DH

159
Q

How is galactose typically absorbed?

A

SGLT-1

160
Q

Non-classical galactosemia vs. Classical galactosemia

A

Non-classical: galactokinase (early cataracts)

Classical: glactose 1-p-uridyl transferase [jaundice, hepatomegaly, neuro damage 2nd-3rd week of life]

161
Q

In hospital, at birth, babies’ heels are pricked to test for…

A

Classical galactosemia

162
Q

_________________ activity in RBC can be used as an index of nutritional thiamine status.

A

Transketolase

163
Q

The oxidative part of the pentose phosphate pathway generates

A

NADPH oxidase

164
Q

Differentiate between chronic granulomatous disease and G6PD deficiency.

A

CGD: NADPH oxidase
G6PD deficiency: inability to regenerate reduced glutathione (GSH) necessary for the enzyme glutathione peroxidase when detoxifying H2O2 in RBC’s

165
Q

Heniz bodies

A

Present in RBC’s undergoing oxidative stress in patients with G6PD deficiency

166
Q

G6PD A- vs. Mediterranean

A

A-: Mild

Mediterranean: Severe

167
Q

MPO deficiency p/w what specific type of recurrent infection?

A

Recurrent Candida infections

168
Q

CGD, also known as Bridges-Good Syndrome p/w

A

Recurrent PNA, Aspergillus

169
Q

Describe the potential fate of H2O2

A

MPO (Cl-), Glutathione peroxidase (organic peroxides), Catalase, Fenton (combine with Fe2+), Haber-Weiss (combine with superoxide)

170
Q

T/F iNOS combines arginine and citruilline to form NO2 radical

A

True

171
Q

T/F Mitochondrial DNA is more susceptible to DNA damage in comparison to nuclear DNA.

A

True. Lack of histones

172
Q

Give several examples of non-enzymatic free radical scavengers

A

Uric acid, glutathione, bilirubin, melatonin

173
Q

The most dangerous free radical

A

Hydroxyl free radical

Step 1 Prep (15 decks)

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