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Step 1 > Biochemistry > Flashcards

Biochemistry Flashcards

1
Q

Which histone is not in the nucleosome core?

A

H1

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2
Q

Which makes DNA active and which makes it less: methylation and acetylation?

A

More active - acetylation, less active - methylation

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3
Q

Which bases are purines and which are pyrimidines?

A

Purines - AG, Pyrimidines - CUT

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4
Q

AAs required for purine synthesis

A

Glycine, Aspartate, Glutamine

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5
Q

AAs required for pyrimidine synthesis

A

Aspartate

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6
Q

Main branch point for both pyrimidine and purine synthesis

A

PRPP

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7
Q

What pathways is carbamoyl phosphate involved in?

A

De novo pyrimidine synthesis and the urea cycle

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8
Q

OTC deficiency

A

OTC involved in urea cycle. Leads to increase in carbamoyl phosphate which is converted to orotic acid (pyr and pur synthesis)

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9
Q

What does hydroxyurea inhibit?

A

Ribonucleotide reductase

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10
Q

Does each of the following inhibit purine or pyrimidine synthesis? 6-MP, 5-FU, MTX, Trimethoprim

A

6-MP is purine, the others are all pyrimidine

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11
Q

Defects that cause orotic aciduria (2) and the genetics

A

Orotic acid phosphoribosyltransferase or orotidine 5-phosphate decarboxylase. AR

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12
Q

How do we distinguish between orotic aciduria and OTC deficiency?

A

OTC deficiency includes signs of hyperammonemia (due to backflow into urea cycle). No hyperammonemia in orotic aciduria

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13
Q

Treatment for orotic aciduria

A

Uridine (inhibits carbamoyl phosphate synthase II)

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14
Q

ADA deficiency causes feedback inhibition of what enzyme?

A

Ribonucleotide reductase

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15
Q

What will be present in high levels in the blood and what enzyme will be hyperactive in Lesch-Nyhan?

A

Uric acid present in high levels (failure to salvage). PRPP will be hyperactive (must make all new purines)

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16
Q

Retardation, self-mutilation, aggression, hyperuricemia, gout, choreoathetosis

A

Lesch-Nyhan

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17
Q

Genetics of Lesch-Nyhan

A

X recessive

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18
Q

Prokaryotic DNA polymerases and their functions

A

DNA pol 3 - synthesizes 5 to 3, proofreads 3 to 5. DNA pol 1 - removes RNA primers 5 to 3.

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19
Q

Defect in xeroderma pigmentosum

A

Excision of thymine dimers (failure of nucleotide excision repair)

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20
Q

Give the actors in base excision repair in order

A

1) Glycosylase, 2) Endonuclease and lyase, 3) DNA pol, 4) Ligase

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21
Q

Defect in HNPCC

A

Failure of mismatch repair

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22
Q

Defect in ataxia telangiectasia

A

Failure of nonhomologous end joining (a type of DNA repair)

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23
Q

What direction is mRNA read? What direction does protein synthesis occur in?

A

mRNA read 5 to 3. Protein synthesis is N to C

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24
Q

mRNA stop codons and what are they recognized by?

A

UGA, UAA, UAG. Recognized by releasing factors

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25
Q

Common sequences in promoters

A

AT-rich (TATA, CAAT)

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26
Q

What do each of the eukaryotic RNA pols make?

A

RNA pol 1 - rRNA (in the nucleolus), RNA pol 2 - mRNA, RNA pol 3 - tRNA

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27
Q

What does alpha-amanitin (in death cap mushrooms) inhibit and what is the effect of this?

A

RNA pol 2. Causes liver failure

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28
Q

Which end are the cap and poly-A tail respectively put on in mRNA?

A

Cap is 5 prime, poly A tail is on 3 prime end

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29
Q

What steps of mRNA processing take place in the cytosol?

A

Addition of 7-MG to 5 prime cap and interaction with P bodies

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30
Q

What do snRPs do and what disease can include antibodies to them?

A

Form splicosome. SLE

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31
Q

What effect do lactose and glucose have on the lac operon respectively?

A

Lactose - inhibits the repressor (expression of lac operon), Glucose - inhibits the activator (no expression of lac operon)

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32
Q

What bacteria are notable for having the lac operon?

A

E coli

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33
Q

What sequence on tRNA holds the AA and which end of the tRNA is it on?

A

CCA on the 3 prime end

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34
Q

What drugs inhibit DNA gyrase (prokaryotic topoisomerase 2)?

A

Fluoroquinolones

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35
Q

What drugs bind 30S and prevent attachment of aminoacyl-tRNA?

A

Tetracyclines

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36
Q

What molecule is necessary for tRNA charging and what is necessary for tRNA translocation?

A

Charging - ATP, translocation - GTP

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37
Q

What drugs bind 30S and inhibit formation of initiation complex and cause misreading of mRNA?

A

Aminoglycosides

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38
Q

What drugs inhibit 50S peptidyl transferase?

A

Chloramphenicol

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39
Q

What drugs block translocation during translation?

A

Macrolides

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40
Q

What drugs block peptide bond formation during translation?

A

Clindamycin and chloramphenicol

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41
Q

What is the 16S subunit, what is it part of, and what does it do?

A

Part of 30S, contains a sequence complementary to mRNA for translation initiation

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42
Q

Rb and p53 inhibit transition from what to what?

A

G1 to S phase

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43
Q

Two examples of stable cells

A

Hepatocytes and lymphocytes

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44
Q

What type of muscle is not permanent (ie can divide)?

A

Smooth

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45
Q

What happens in RER and what cells have lots of RER?

A

Synthesis of exported proteins and N-linked oligosaccharide addition. Mucus-secretion goblet cells (SI) and plasma cells

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46
Q

What part of the neuron are nissl bodies in and what are they?

A

They are RER. In dendrites but not axons

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47
Q

What do SER do and give an example of something that would lead to more SER in liver

A

Steroid synthesis and detox of drugs and poisons. Polypharmacy will do it.

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48
Q

Protein modification in golgi

A

Modifies N-oligosaccharides on aspargine. Adds O-oligosaccharides on serine and threonine

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49
Q

Vesicular trafficking proteins (3) and what each does

A

COPI - retrograde (golgi to ER), COPII - anterograde (RER to cis-golgi), Clathrin - trans-golgi to lysosomes, PM to endosomes

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50
Q

Coarse facial features, clouded corneas, restricted joint movements

A

I-cell disease. Will see high plasma levels of lysosomal enzymes

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51
Q

Where are chondroiton and heparan formed and where does sulfation of tyrosine occur?

A

Golgi

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52
Q

Where are very long FAs beta oxidized?

A

Peroxisomes

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53
Q

Between dynein and kinesin, which is retrograde and which is anterograde?

A

Kinesin - anterograde, Dynein - retrograde

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54
Q

What drugs act on microtubules?

A

Mebendazole and Thiabendazole (antihelminthic), Griseofulvin (antifungal), Vincristine and vinblastine (anticancer), Paclitaxel (anti breast cancer), Colchicine (anti gout)

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55
Q

Kartageners is a defect in what?

A

Dynein arm

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56
Q

How do ciliated cells communicate?

A

Gap junctions

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57
Q

Infertility, bronchiectasis, sinusitis, situs inversus

A

Kartageners

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58
Q

What disease is glial fibrillary acid protein (GFAP) a marker for?

A

Alexander disease (17q21 mutation, developmental delay, macrocephaly, seizures, hydrocephalus, dementia, spasticity)

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59
Q

3 main methods of protein degradation

A

Proteosome (ubiquitin), Lysosome, Calcium-dependent enzymes

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60
Q

Give the cancer(s) associated with each of the stainable intermediate filaments

A

Vimentin - sarcomas and some carcinomas, Desmin - rhabdomyosarcoma, leiomyoma, Cytokeratin - carcinomas, some sarcomas, GFAP - astocytoma, Neurofilaments - adrenal neuroblastoma

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61
Q

Ouabain

A

Inhibits Na-K pump by binding to K site

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62
Q

What is the most abundant AA in collagen?

A

Glycine

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63
Q

Pattern in preprocollagen

A

Gly-X-Y (X and Y are proline, hydroxyproline or hydroxylysine)

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64
Q

Which step of collagen synthesis requires Vitamin C?

A

Hydroxylation of proline and lysine

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65
Q

Which steps of collagen synthesis occur where?

A

ER - synthesis, hydroxylation and glycosylation (triple helix formation), Extracellular - C-terminal cleavage (tropocollagen), Cross-linking (by lysyl oxidase)

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66
Q

What class of drugs inhibits collagen synthesis?

A

Steroids

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67
Q

Genetics of osteogenesis imperfecta

A

Type 1 - AD (most common). Type 2 - AR (fatal early)

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68
Q

Name a disorder that includes hearing loss and dental imperfections

A

Osteogenesis imperfecta

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69
Q

What is wrong with the type 3 collagen in ehlers-danlos?

A

Defective extracellular cleavage at the N and C termini makes it more soluble and less crosslinked

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70
Q

Genetics of Alport and what is the deficiency?

A

Abnormal type 4 collagen. X recessive

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71
Q

Hereditary nephritis, deafness, ocular disturbances

A

Alport. Ocular disturbances due to lenticonus (thinning of lens capsule)

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72
Q

What AAs are prevalent in elastin?

A

Proline and glycine (both nonglycosylated)

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73
Q

Wrinkles of aging are due to what?

A

Reduced collagen and elastin production

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74
Q

What type of emphysema is seen in a1 antitrypsin deficiency?

A

Panacinar

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75
Q

Give the targets of Southern, Northern, and Western blots. Briefly describe Southwestern blotting.

A

Southern - DNA, Northern - RNA, Western - Protein. Southwestern blotting finds TFs

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76
Q

Cre-lox system

A

Inducibly manipulating genes using antibiotic-controlled promoters

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77
Q

Heteroplasmy relates to what kind of DNA?

A

Mitochondrial

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78
Q

What chromosome contains the gene for Prader-Willi and Angelman and which parental copy is deleted in each?

A
  1. Paternal deleted in PW, Maternal deleted in Angelman
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79
Q

MR, hyperphagia, obesity, hypogonadism, hypotonia

A

Prader-Willi

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80
Q

MR, seizures, ataxia, inappropriate laughter

A

Angelman

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81
Q

Hypophosphatemic rickets pathophys and genetics

A

X linked dominant. Increased phosphate wasting at proximal tubule

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82
Q

What characterizes mitochondrial myopathies on microscopy?

A

Ragged red fibers

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83
Q

Genetics and defect in achondroplasia

A

FGF receptor 3. AD. Associated with advanced paternal age

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84
Q

What gene is most commonly mutated in ADPKD and what chromosome is it on?

A

PKD1. Chromosome 16

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85
Q

Common complications of ADPKD

A

Polycystic liver disease, berry aneurysms (due to HTN), MVP

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86
Q

Genetics and defect (include chromosome if you know it) in FAP

A

APC gene (chr 5), AD

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87
Q

Genetics and defect in hyperlipidemia type IIA

A

LDL receptor defect, AD.

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88
Q

Genetics of Osler-Weber-Rendu

A

AD

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89
Q

Telangiectasia, recurrent epistaxis, skin discoloration, AVMs

A

Osler-Weber-Rendu (Hereditary hemorrhagic telangiectasia)

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90
Q

Genetics and defect in hereditary spherocytosis

A

AD defect in spectrin or ankyrin

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91
Q

Genetics and defect (include chromosome if you know it) in Huntingon. Also what are the NT levels like?

A

AD. Chromosome 4. Low levels of GABA and ACh

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92
Q

Genetics and main complications of Marfan

A

AD. Aortic incompetence and dissecting aortic aneurysms. Floppy mitral valve, subluxation of lenses

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93
Q

Genetics and defect (include chromosome if you know it) in MEN

A

AD. 2A and 2B associated with ret gene

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94
Q

Genetics and defect (include chromosome if you know it) in NF-1

A

AD. Chromosome 17

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95
Q

What disorder includes lisch nodules and what are they?

A

NF-1. Pigmented iris hamartomas

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96
Q

Genetics and defect (include chromosome if you know it) in NF-2

A

AD. Chromosome 22

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97
Q

What disorder includes bilateral acoustic schwannoma and juvenile cataracts?

A

NF-2

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98
Q

Genetics of tuberous sclerosis

A

AD

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99
Q

Facial lesions, hypopigmented spots, cortical and retinal hamartomas, seizures, MR, renal cysts and angiomyolipomas, cardiac rhabdomyomas, astrocytomas

A

Tuberous sclerosis

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100
Q

Genetics and defect (include chromosome if you know it) in VHL

A

VHL gene (a TS) on chromosome 3p

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101
Q

Hemangioblastomas on retina, cerebellum and medulla. RCC, constitutive expression of HIF and angiogenic growth factors

A

VHL

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102
Q

List AR disorders (10)

A

Albinism, ARPKD, CF, glycogen storage disorders, hemochromatosis, mucopolysaccharidoses (except Hunter), PKU, sickle cell, sphingolipidoses (except Fabry), thalassemias

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103
Q

Genetics and defect (include chromosome if you know it) in CF

A

CFTR gene (chr 7), AR

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104
Q

Common pulmonary infections in CF

A

Pseudomonas and S aureus

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105
Q

What type of channel is CFTR?

A

An ATP-Gated channel

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106
Q

Why do males with CF have infertility?

A

Bilateral absence of vas deferens

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107
Q

Treatment for CF

A

N-acetylcystein to loosen mucous plugs

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108
Q

List X recessive disorders (10)

A

Brutons, Wiskott-Aldrich, Fabrys, G6PD def, Ocular albinism, Lesch-Nyhan, Duchennes, Beckers, Hunters, Hemophilia A and B

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109
Q

What type of mutation occurs in duchennes?

A

X-linked frame-shift mutation (leads to deletion of dystrophin gene)

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110
Q

First muscles affected in duchennes

A

Hip muscles (hence Gowers sign)

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111
Q

Genetics and defect (include chromosome if you know it) in Fragile X

A

FMR1 gene is incorrectly methylated (X chr).

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112
Q

Macroorchidism, long face with large jaw, larage everted ears, autism, MVP, MR

A

Fragile X

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113
Q

What are the repeats in Fragile X, Friedreichs, Huntingtons, and Myotonic dystrophy respectively?

A

Fragile X - CGG, Friedreich - GAA, Huntington - CAG, Myotonic dystrophy - CTG

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114
Q

AFP levels in common in trisomies and NT defects

A

Trisomies 21 and 18 - low. Trisomy 13 - normal. NT defect - high

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115
Q

Trisomy 21 and 18 both have low AFP levels. What is the best way to differentiate them?

A

B-hCG. High in 21, Low in 18

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116
Q

In what instance would you see increased nuchal translucuency in utero

A

Trisomy 21

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117
Q

What is the in utero defect associated with high Inhibin A levels?

A

Trisomy 21

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118
Q

Flat facies, prominant epicanthal folds, simian crease, gap between 1st 2 toes, duodenal atresia, congenital heart diseaes

A

Downs syndrome

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119
Q

Most common complications of Downs syndrome

A

Duodenal atresia, septum primum, ASD, ALL, Alzheimers

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120
Q

What cause of Down syndrome has no maternal association?

A

Mosiacism. The other two causes are nondisjunction and robertsonian

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121
Q

Severe MR, rocker bottom feet, micrognathia (small jaw), low set ears, clenched hands, prominent occiput, congenital heart disease. Death within 1 year of birth

A

Edwards (trisomy 18)

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122
Q

Severe MR, rocker bottom feet, microphthalmia, microcephaly, cleft lip and palate, holoprosencephaly, polydactyly. Death within 1 year.

A

Pataus (trisomy 13)

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123
Q

Microcephaly, moderate to severe MR, epicanthal folds, VSD

A

Cri-du-chat (also high pitched cry, but that makes it too easy)

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124
Q

Deletion in cri du chat

A

Short arm of 5

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125
Q

Abnormal facies, MR, hypercalcemia, extreme friendliness, cardiovascular problems

A

Williams syndrome (microdeletion of chr 7 which includes elastin gene)

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126
Q

Defects in DiGeorge

A

CATCH-22. Cleft palate, Abnormal facies, Thymic aplasia, Cardiac defects, Hypocalcemia

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127
Q

Fat soluble vitamins

A

ADEK

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128
Q

Water soluble vitamins (9)

A

B1 (thiamine), B2 (riboflavin), B3 (niacin), B5 (pantothenic acid), B6 (pyridoxine), B12 (cobalamin), C (ascorbic acid), Biotin, Folate

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129
Q

What compound prevents squamous metaplasia?

A

Vitamin A

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130
Q

What can Vit A be used to treat (2)

A

AML (subtype M3) and Measles

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131
Q

Vit A deficiency

A

Night blindness, dry skin

132
Q

Vit A excess

A

Arthralgias, fatigue, headaches, skin changes, sore throat, alopecia

133
Q

Enzymes which require B1 (4)

A

Pyruvate dehydrogenase (glycolysis), Alpha-ketoglutarate dehydrogenase (TCA), Transketolase (HMP shunt, cytosolic), Branched-chain AA dehydrogenase

134
Q

Classic triad of Wernicke-Korsakoff

A

Confusion, ophthalmoplegia, ataxia. Also shows up with confabulation, personality change, memory loss

135
Q

Wernicke-Korsakoff results from damage to what structures?

A

Medial dorsal nucleus of thalamus and mammillary bodies

136
Q

Dry beriberi

A

Polyneuritis, symmetrical muscle wasting

137
Q

Wet beriberi

A

High output cardiac failure (dilated cardiomypoathy), edema

138
Q

B2 deficiency

A

Cheilosis, corneal vascularization. NB - FAD (cofactor for succinate dehydrogenase) and FMN are derived from riboflavin

139
Q

What is Vit B3 (niacin) used for and what can it be derived from?

A

Use in redox reactions (with NAD+ and NADP+), can be made from tryptophan

140
Q

Vit B3 (niacin) deficiency

A

Pellagra - Diarrhea, Dermatitis, Dementia. Also glossitis

141
Q

What can cause Vit B3 deficiency (3)

A

Hartnup disease (will also have pruritic rash, ataxia, loose stools), Malignant carcinoid, INH

142
Q

Functions of Vit B5

A

Component of CoA and FA synthase

143
Q

Vit B5 deficiency

A

Dermatitis, enteritis, alopecia, adrenal insufficiency

144
Q

What compound can increase peripheral metabolism of levodopa?

A

Vitamin B6. NB - Vit B6 is required to make niacin (B3) from tryptophan

145
Q

Functions of Vit B6

A

Transamination, decarboxylation, glycogen phosphorylase. Synthesis of cystathionine, heme, niacin, GABA

146
Q

Vit B6 deficiency

A

Convulsions, hyperirritability, peripheral neuropathy, sideroblastic anemia

147
Q

What drugs can induce B6 deficiency?

A

INH and oral contraceptives

148
Q

Macrocytic, megaloblastic anemia, hypersegmented PMNs, neurologic symptoms

A

Vit B12 deficiency

149
Q

Methylmalonic acidemia is a defect in isomerization of what to what?

A

Methylmalonyl CoA to succinyl CoA (which requires B12)

150
Q

What is the most common vitamin deficiency in the US?

A

Folic acid. Especially common in alcoholism and pregnancy

151
Q

Why is IM Vit B12 given before a Shilling test?

A

To fill body stores of B12 so any absorbed B12 will end up in urine (where it can be measured)

152
Q

Interpret the following Shilling test results (all numbers given are percentages): 1) D1 > 5, 2) D1 5

A

1 is normal. 2 is not pernicious anemia (may be fishworm, whipple, sprue, enteritis, etc). 3 is pernicious anemia

153
Q

When we make methionine 3 compounds get converted to 3 other compounds. What are they?

A

Homocysteine to methionine. Methylcobalamin to cobalamin. 5-methyl THF to THF

154
Q

Homocysteine can be used to make methionine. If we are deficient in B12 or Folate however, what other path does homocysteine go down?

A

Homocysteine to Cystathione to Cystine (requires B6)

155
Q

What is the main methyl donor?

A

SAM

156
Q

Biotin is a cofactor for what enzymes (3)

A

Pyruvate carboxylase, Acetyl-CoA carboxylase, Propionyl-CoA carboxylase

157
Q

Symptoms and main causes of Biotin deficiency

A

Dermatitis, alopecia, enteritis. Antibiotic use or excessive ingestion of raw eggs.

158
Q

What vitamin facilitates iron absorption?

A

Vit C

159
Q

What is necessary for converting dopamine to NE?

A

Vitamin C

160
Q

Swollen gums, bruising, hemarthrosis, anemia, poor wound healing

A

Scurvy (vit c deficiency)

161
Q

Nausea, vomiting, diarrhea, fatigue, sleep problems, iron toxicity.

A

Vitamin C excess

162
Q

What electrolyte abnormality usually leads to tetany?

A

Hypocalcemia

163
Q

Two vitamins that are not in breast milk and should be supplemented

A

Vitamin D and Vitamin K

164
Q

Hypercalcemia, hypercalciuria, loss of appetite, stupor. May be associated with sarcoidosis

A

Vitamin D excess

165
Q

What is the main function of Vitamin E?

A

Protect RBCs and PMs from oxidation damage

166
Q

Hemolytic anemia, muscle weakness, posterior column and spinocerebellar tract demyelination

A

Vitamin E def

167
Q

Vitamin K dependent factors

A

2, 7, 9, 10, Proteins C and s

168
Q

Delayed wound healing, hypogonadism, decrease in adult hair, dysgeusia, anosmia

A

Zinc deficiency (5)

169
Q

Deficiency of what vitamin may predispose to alcoholic cirrhosis?

A

Zinc

170
Q

Antidote for methanol or ethylene glycol poisoning

A

Fomepizole

171
Q

Why do you get increased ketone and FA production in alcoholism?

A

Depletion of oxaloacetate (pyruvate diverted to lactate by low NAD+) shuts down TCA and diverts aCoA into ketones. Overproduction of malate increases NADPH and thus FA synthesis

172
Q

What regenerates the NAD+ consumed in glycolysis from G3P –> 1,3BPG?

A

Pyruvate –> Lactate

173
Q

Marasmus

A

Complete malnutrition leading to tissue and muscle wasting, loss of fat, variable edema (not nearly as much edema as kwashiorkor)

174
Q

Give the rate limiting enzymes for the following: Glycolysis, Gluconeogenesis, TCA cycle, Glycogenolysis

A

PFK-1, F-1,6-Bisphosphatase, Isocitrate dehydrogenase, Glycogen phosphorylase

175
Q

Give the rate limiting enzymes for the following: De novo pyrimidine synthesis, De novo purine synthesis, Urea cycle, FA synthesis, FA oxidation, Ketogenesis

A

Carbamoyl phosphate synthetase 2, Glutamine-PRPP amidotransferase, Carbamoyl phosphate synthetase 1, Acetyl-CoA carboxylase, Carnitine acyltransferase 1, HMG-CoA synthase

176
Q

Acetyl-CoA is an allosteric activator of what pathway?

A

Gluconeogensis. This is because it stimulates pyruvate –> oxaloacetate. This can then go to PEP and eventually back up to glucose

177
Q

What are the two main universal electron acceptors associated with vitamins and which vitamins is used to make each?

A

NAD+ (from Vit B3) and FAD+ (from Vit B2)

178
Q

4 main uses of NADPH

A

1) Anabolic processes, 2) Respiratory burst, 3) P-450 system, 4) Glutathione reductase

179
Q

What induces and inhibits hexokinase and glucokinase respectively?

A

Hexokinase - uninduced and inhibited by G-6-P. No induction. Glucokinase - Induced by insulin, no inhibition

180
Q

What enzyme allows the liver to serve as a blood glucose buffer

A

Glucokinase. Also acts like a glucose sensor in B cells

181
Q

In contrast to a previous card, something inhibits glucokinase. What is it?

A

Fructose-6-Phosphate

182
Q

What things activate or inhibit the rate limiting step in glycolysis (PFK-1)?

A

Activate - AMP, Fructose-2,6-BP. Inhibit - ATP, Citrate

183
Q

What things inhibit or activate pyruvate kinase (PEP to Pyruvate)?

A

Inhibit - ATP, Alanine, Activate - Fructose-1,6-BP

184
Q

What things inhibit or activate pyruvate dehydrogenase (pyruvate to acetyl-CoA)

A

Inhibit - ATP, NADH, Acetyl-CoA. No activators

185
Q

What enzyme allows us to make use of fructose if fructokinase is deficient?

A

Hexokinase (converts fructose to f-6-p, just like it does with glucose)

186
Q

Which fructose related enzyme and its product are active in fed state? Which in fasting state? What protein regulates this process?

A

Fed state - PFK-2 makes more Fructose-2,6-Bisphosphate. Fasting state - Fructose Bisphosphatase 2 makes more Fructose-6-Phosphate. Protein Kinase A (resulting from insulin/glucagon) regulates this

187
Q

Cofactors required for pyruvate dehydrogenase complex

A

Pyrophosphate (from B1, thiamine), FAD (from B2), NAD (from B3), CoA (from B5), Lipoic acid

188
Q

What does arsenic inhibit and what are the findings in arsenic poisoning?

A

Lipoic acid (part of pyruvate and alpha-ketoglutarate dehydrogenase complexes). Findings are vomiting, rice water stools, garlic breath

189
Q

Purely ketogenic amino acids

A

Lysine and Leucine

190
Q

Which promotes glycolysis, high or low levels of Fructose-2,6-bisphosphate?

A

High levels

191
Q

What are the four potential outcomes for a pyruvate molecule?

A

1) Alanine (carry AAs to liver), 2) Oxaloacetate (gluconeogenesis or TCA), 3) Acetyl-CoA (TCA), 4) Lactate (regenerate NAD+)

192
Q

Deficiency of B1, B2, B3, B5 or Lipoic acid will stop what two steps related to the TCA?

A

Pyruvate dehydrogenase (pyruvate to acetyl-CoA) and a-KG dehydrogenase (a-KG to Succinyl CoA)

193
Q

GTP generated in what step of the TCA can be used to regenerate PEP and start gluconeogenesis?

A

Succinyl-CoA to Succinate

194
Q

Major ox phos poisons and the category of each

A

Cyanide and CO - electron transport inhibitors. Oligomycin - ATP synthase inhibitor. Aspirin and 2,4-DNP - Uncoupling agents

195
Q

Where does gluconeogenesis occur (organs)?

A

Liver, kidney, intestinal epithelium

196
Q

Irreversible enzymes required for gluconeogenesis (4)

A

Pyruvate carboxylase (biotin), PEP carboxykinase, Fructose-1,6-bisphosphatase, G-6-Phosphatase

197
Q

Cholesterol synthesis requires what other biochemical pathway to be working?

A

HMP shunt

198
Q

Sites where HMP shunt is active (organs)

A

Lactating mammary glands, liver, adrenal cortex, RBCs

199
Q

Three differences between the nonoxidative and oxidative arms of the HMP shunt

A

1) The enzymes (G6PD for oxidative, transketolases for nonox), 2) B1 required for nonox (but ox is limiting), 3) Nonox is reversible, ox is irreversible

200
Q

Chronic granulmatous disease is a deficiency of what enzyme?

A

NADPH oxidase

201
Q

Two common examples of catalase-positive species which may cause serious infections in pts with chronic granulomatous disease

A

Staph aureus and Aspergillus

202
Q

Defects and genetics of essential fructosuria and fructose intolerance. Which is more serious?

A

Essential frucosuria - fructokinase, AR. Fructose intolerance (more serious) - aldolase B, AR.

203
Q

Hypoglycemia, jaundice, cirrhosis, vomiting

A

Fructose intolerance

204
Q

Which tend to be more serious, fructose disorders or galactose disorders?

A

Galactose

205
Q

Treatment for fructose intolerance (and reasoning)

A

Decreased intake of fructose and sucrose (which is glucose + fructose)

206
Q

Defects and genetics of galactokinase deficiency and galactosemia. Which is more serious?

A

Galactokinase def - galactokinase, AR. Classic galactosemia (more serious) - Galactose-1-phosphate uridyltransferase, AR

207
Q

Why are fructose disorders typically less serious than galactose disorders?

A

Fructose can still be converted to glucose-6-phosphate (through Fructose-6-Phosphate). Galactose has no exit but galactitol (which is toxic)

208
Q

Infant with cataracts, failure to track objects or develop a social smile, few other symptoms

A

Galactokinase deficiency

209
Q

Failure to thrive, jaundice, hepatomegaly, cataracts, MR

A

Classic galactosemia

210
Q

Treatment for classic galactosemia and reasoning behind it

A

Exclude galactose and lactose (galactose + glucose)

211
Q

What is the main toxic substance in galactose disorders and what does it damage primarily?

A

Galactitol causes cataracts

212
Q

The more serious fructose and galactose deficiencies lead to depletion of what?

A

PO4 (because they are generating phosphate-sugars which cant be metabolized)

213
Q

Give the two main steps in sorbitol metabolism

A

Glucose to Sorbitol (by Aldose reductase). Sorbitol to Fructose (by sorbitol dehydrogenase). NADPH required for rxn 1, NAD+ required for rxn 2

214
Q

What cells are missing a sorbitol related enzyme, what enzyme is it, and what is the effect?

A

Schwann cells, lens, retina, and kidneys are missing sorbitol dehydrogenase. Sorbitol accumulates (and has osmotic effects). Cause of numerous problems in diabetics

215
Q

What is another name for lactose and what enzyme metabolizes it to what?

A

Galactosyl-beta-1,4-glucose. Metabolized by lactase to galactose

216
Q

Essential glucogenic amino acids

A

Met, Val, Arg, His

217
Q

Essential glucogenic/ketogenic AAs

A

Ile, Phe, Thr, Trp

218
Q

Which two AAs are required during periods of growth? Which two AAs are in high levels in histones?

A

Growth - Arg and His. Histones - Arg and Lys

219
Q

What enzyme is the rate limiting step in the urea cycle and what substance activates this step?

A

Carbamoyl phosphate synthetase 1. Activated by N-acetylglutamate

220
Q

Spastic paresis of lower extremity, choreoathetoid movements

A

Arginase deficiency. Will see increased arginine

221
Q

What donates a NH4+ group into the urea cycle

A

Aspartate (which converts cirtulline to argininosuccinate)

222
Q

AAs with 3 titrable protons

A

Histidine, arginine, lysine, aspartic acid, glutamic acid, cysteine, tyrosine

223
Q

Treatments for hyperammonemia

A

Limit protein. Benzoate or phenylbutyrate (bind AAs leading to excretion). Lactulose to acidify Gi and trap NH4 for excretion

224
Q

Tremor, slurring of speech, somnolence, vomiting, cerebral edema, blurring of vision

A

Ammonia intoxication

225
Q

What is the most common urea cycle disorder and what is its genetics?

A

OTC deficiency. X recessive

226
Q

OTC deficiency is X recessive. All the other urea cycle disorders are of what genetics?

A

AR

227
Q

Enzyme deficiencies of the urea cycle (6)

A

1) Carbamoyl phosphate synthase, 2) OTC (most common), 3) Argininosuccinic acid synthase, 4) Argininosuccinic acid lyase, 5) Arginase, 6) N-acetylglutamate synthase (affects activator of rate limiting step rather than a step in the urea cycle per se)

228
Q

Derivatives of phenylalanine (7)

A

Tyrosine (yields thyroxine) –> Dopa (yields melanin) –> Dopamine –> NE –> Epi

229
Q

Derivatives of tryptophan

A

Niacin (requires B6, generates NAD+/NADP+) and Serotonin (requires BH4, generates melatonin)

230
Q

Derivatives of arginine

A

Creatinine, urea, No

231
Q

Breakdown products via MAO and COMT

A

Dopamine to HVA, NE to VMA, Epi to Metanephrine

232
Q

Phenylethanolamine N-methyl transferase

A

NE to Epi (requires SAM). Activated by cortisol

233
Q

What enzyme does carbidopa inhibit?

A

Dopa decarboxylase (converts dopa to dopamine with help of B6)

234
Q

What vitamin is required to convert dopamine to NE and what enzyme carries this out?

A

Dopamine B-hydroxylase with Vitamin C

235
Q

Defects and genetics of PKU

A

Deficiency of phenylalanine hydroxylase or BH4 (tetrahydrobiopterin) cofactor. AR

236
Q

What becomes essential in PKU?

A

Tyrosine (which is made from Phe and subsequently makes Dopa, Dopamine, NE, and Epi)

237
Q

MR, growth retardation, seizures, fair skin, eczema, musty body odor

A

PKU

238
Q

When do you screen for PKU

A

2-3 days after birth

239
Q

Microcephaly, MR, growth retardation, congenital heart defects

A

Maternal PKU

240
Q

Defect and genetics of alkaptonuria (ochronosis)

A

Homogentistic acid oxidase deficiency. AR

241
Q

Dark connective tissue, brown pigmented sclera, debilitating arthralgias (sometimes) but often asymptomatic.

A

Alkaptonuria. Urine will turn black on prolonged exposure to air

242
Q

Defects and genetics of albinism

A

Tyrosinase defect (AR) or defective tyrosine transporters (variable inheritence). Can also result from lack of migration of neural crest cells

243
Q

Defects and genetics of homocystinuria

A

AR. One of three defects: 1) Cystathionine synthase defect, 2) Decreased affinity of cystathionine synthase for pyridoxal phosphate (give B6), 3) Homocysteine methyltransferase def (give B12)

244
Q

What becomes essential in homocystinuria?

A

Cysteine

245
Q

Mental retardation, osteoporosis, tall stature, kyphosis, lens subluxation, atherosclerosis, renal infarcts

A

Homocystinuria (will also find high levels of homocysteine in urine)

246
Q

Defect and genetics in cystinuria

A

AR. Defect in renal tubular transporter for cysteine, ornithine, lysine, and arginine (PCT)

247
Q

Treatment for cystinuria

A

Acetazolamide to alkalinize urine

248
Q

Defect in maple syrup urine disease

A

Blocked degradation of branched AAs (isoleucine, leucine, valine) due to decreased alpha-ketoacid dehydrogenase

249
Q

What should you give in maple syrup disease and why?

A

Thiamine. Alpha-ketoacid dehydrogenase (which is deficient) requires B1, B2, B3, B5 and Lipoic Acid

250
Q

Severe CNS defects, MR, death, strange smell to urine

A

Maple syrup disease

251
Q

Defect and genetics of hartnup disease

A

AR. Defective neutral AA transporter on renal and intestinal epithelial cells. Will see tryptophan in urine

252
Q

Hartnup disease leads to a condition very similar to what vitamin deficiency?

A

Pellagra (Vit B3 deficiency)

253
Q

What is the effector for insulin, glucagon, and epi effects on glycogen metabolism in liver and muscle

A

cAMP –> PKA. PKA phosphorylates glycogen phosphorylase kinase, activating it

254
Q

In glycogen, what is the bond at branches? What is the bond at linkages?

A

Branches - alpha 1,6. Linkages - alpha 1,4.

255
Q

Severe fasting hypoglycemia, increased glycogen in liver, increased blood lactate, hepatomegaly, increased uric acid

A

Von Gierkes disease (type 1). Deficiency of glucose-6-phosphatase

256
Q

Cardiomegaly and early death

A

Pompes disease (type 2) infantile form. Deficiency of lysosomal alpha 1,4 glucosidase (acid maltase). Is the only glycogen storage disease that is also lysosomal

257
Q

Diaphragm weakness, respiratory failure in an adult

A

Pompes disease adult form (type 2 glycogen storage). Deficiency of lysosomal alpha 1,4 glucosidase

258
Q

What is the presentation of Cori disease and what is the enzyme deficiency?

A

Similar to Von Gierkes but with normal blood lactate (gluconeogenesis is intact). Debranching enzyme (alpha 1,6 glucosidase) deficiency

259
Q

Painful muscle cramps, myoglobinuria with exercise

A

McArdles disease. Deficiency in skeletal muscle glycogen phosphorylase

260
Q

Peripheral neuropathy of hands and feet, angiokeratomas, cardiovascular and renal disease

A

Fabrys disease. Deficiency of alpha galactosidase A

261
Q

Defect and genetics of Fabrys disease

A

X recessive. Deficient alpha galactosidase A leads to accumulation of ceramide trihexosidase. Mainly affects fibroblasts

262
Q

Hepatosplenomegaly, aseptic necrosis of femur, bone crises, abnormal looking macrophages

A

Gauchers disease. Most common lysosomal storage disease

263
Q

Defect and genetics of Gauchers

A

Autosomal recessive. Deficiency of glucocerebrosidase leading to glucocerebroside accumulation

264
Q

Progressive neurodegeneration, hepatosplenomegaly, cherry red spot on macula, foam cells

A

Niemann-Pick

265
Q

Defect and genetics of Niemann-Pick

A

Autosomal recessive. Sphingomyelinase deficiency

266
Q

Progressive neurodegeneration, developmental delay, cherry red spot on macula, lysosomes with onion skin, no hepatosplenomegaly

A

Tay-Sachs

267
Q

Defect and genetics of Tay Sachs

A

AR. Defective hexosaminidase A leads to GM2 ganglioside accumulation

268
Q

How do you differentiate Tay-Sachs from Niemann-Pick?

A

Hepatosplenomegaly in Niemann-Pick, none in Tay-Sachs

269
Q

Peripheral neuropathy, developmental delay, optic atrophy, globoid cells

A

Krabbes disease

270
Q

Defect and genetics in Krabbes disease

A

AR. Galactocerebrosidase deficiency

271
Q

Central and peripheral demyelination with ataxia and dementia

A

Metachromatic leukodystrophy

272
Q

Defect and genetics in metachromatic leukodystrophy

A

AR. Deficiency of arylsulfatase A leads to accumulation of cerebroside sulfate

273
Q

Developmental delay, airway obstruction, corneal clouding, hepatosplenomegaly

A

Hurlers syndrome. Will also have gargoylism

274
Q

Defect and genetics of Hurlers

A

AR. Alpha-L-iduronidase deficiency leads to accumulation of heparan sulfate and dermatan sulfate

275
Q

Mild developmental delay, airway obstruction, hepatosplenomegaly, aggressive behavior

A

Hunters syndrome

276
Q

Defect and genetics in Hunters

A

X recessive. Iduronate sulfatase leads to accumulation of heparan sulfate and dermatan sulfate (same substances that build up in Hurlers)

277
Q

Weakness, hypotonia, hypoketotic hypoglycemia

A

Carnitine deficiency

278
Q

High dicarboxylic acids, low glucose and ketones

A

Acyl-CoA dehydrogenase deficiency (cant breakdown FAs in mitochondria)

279
Q

Glycerol from triglycerides is degraded to what by what and where (organ)?

A

To DHAP by Glycerol Kinase in the liver. DHAP can then undergo glycolysis or gluconeogenesis

280
Q

What esterifies most plasma cholesterol?

A

LCAT

281
Q

What degrades triglycerides in IDL and in adipocytes respectively?

A

IDL - Hepatic Lipase (HL). Adipocytes - Hormone-sensitive lipase. Otherwise TGs degraded by LPL (in chylomicrons and VLDL)

282
Q

What transfers cholesterol esters to lipoprotein particles?

A

CETP

283
Q

Give the major function of each of the following apolipoproteins: E, A-1, C-2, B-48, and B-100

A

E - mediates remnant uptake, A-1 activates LCAT, C-2 is a LPL cofactor, B-48 chylomicron secretion, B-100 binds LDL receptor (extrahepatic uptake)

284
Q

Where is HDL secreted from?

A

Liver and intestine

285
Q

Defect in type 1 familial dyslipidemia

A

Hyperchylomicronemia due to LPL deficiency or altered Apo C-2. Pancreatitis, hepatosplenomegaly, eruptive/pruritic xanthomas (no increased risk of atherosclerosis)

286
Q

Defect in IIa familial hypercholesterolemia

A

Absent or reduced LDL receptors. AD. Accelereated atherosclerosis, tendon xanthomas, corneal arcus

287
Q

Defect in type IV familial dyslipidemia

A

Hepatic overproduction of VLDL. Pancreatitis

288
Q

Defect and genetics of abetalipoproteinemia

A

Failure to synthesize lipoproteins due to deficiencies in apoB-100 and apoB-48. AR

289
Q

Failure to thrive, steatorrhea, acanthocytosis, ataxia, night blindness

A

Abetaliproteinemia

290
Q

What acid base disorder do people with bulemia get and what is the major complication?

A

Metabolic alkalosis. High risk for arrhythmias with met alk

291
Q

What is it called when you hear a crunch sound on lung auscultation, what causes it, and what condition often leads to it?

A

Hemimans crunch, usually secondary to Boerhaves syndrome (rupture esophagus due to wretching). Often associated with bulimia

292
Q

If you can get them food, which child is more likely to die, one with kwashiorkor or one with marasmus?

A

The one with kwashiorkor. It has been wreaking havoc on their liver

293
Q

Child with edema, flaky dermatitis, reddish hair, copper deficiency

A

Kwashiorkor

294
Q

If a nonsmoker gets squamous metaplasia in the lung, what might have caused this?

A

Vitamin A deficiency

295
Q

What should you associate with eating bear liver?

A

Hypervitaminosis A - cerebral edema, papilledema, headache

296
Q

What two organs is hypervitaminosis A most toxic to?

A

Brain and liver

297
Q

Where does PTH act to affect calcium reabsorption in the kidney?

A

The distal tubule (where thiazides act)

298
Q

Where does PTH act to affect phosphorus reabsorption in the kidney?

A

It decreases phosphorus reabsorption in the proximal tubule. It also decreases bicarb reabsorption here too

299
Q

What is the only hormone with a receptor on osteoclasts?

A

Calcitonin

300
Q

What is released when Vitamin D and PTH respectively bind to osteoblasts?

A

Vitamin D - alk phos (associated with bone growth), PTH - IL-1 (osteoclast activating factor)

301
Q

Why would a patient on phenytoin get hypocalcemia?

A

CYP450 system metabolizes Vitamin D. Phenytoin induces this system

302
Q

What enzyme is increased by drugs that induce the CYP450 system?

A

GGT

303
Q

Two things you see in kids with rickets that you dont see in adults with osteomalacia

A

Soft skulls and Ricketic rosaries (bumps around ribs)

304
Q

Most common complication of hypervitaminosis D

A

Kidney stones

305
Q

What vitamin deficiency is associated with hemolytic anemia?

A

Vitamin E

306
Q

What is the most significant complication of hypervitaminosis E and why?

A

Anticoagulation. Inhibits synthesis of Vitamin K dependent factors. Be especially careful if the patient is on warfarin as these will have synergistic effects

307
Q

Why are newborns usually deficient in vitamin K?

A

They have about a 3 day supply from mom. Otherwise, we get most Vitamin K from bacteria in our gut, and they havent been colonized yet

308
Q

Main window for hemorrhagic disease of the newborn

A

Days 3 to 5 (maternal supplies last until day 3, and bacteria colonize by day 5)

309
Q

What converts Vitamin K to the active form?

A

Epoxide reductase (usually in bacteria)

310
Q

What does vitamin K do to vitamin K dependent clotting factors and how does that allow them to work?

A

Gamma carboxylates their glutamic acid residues. This allows them to bind Ca which they use to bind to clots

311
Q

Most common causes of vitamin K deficiency

A

Antibiotics, being a newborn, malabsorption, warfarin

312
Q

Hemorrhage around hair follicules, cork screw hair, glossitis, kelosis around ankles, hemorrhagic diathesis

A

Scurvey

313
Q

Most common complication of hypervitaminosis C

A

Renal stones (uric acid, others as well)

314
Q

Most common palsies seen in dry beriberi

A

Common peroneal (foot drop), Radial (wrist drop), Ulnar (claw hand)

315
Q

What should you give a patient before you give them glucose?

A

Thiamine (to prevent wernickes)

316
Q

What condition often presents with a necklace configuration dermatitis?

A

Pellagra (along with dementia and diarrhea)

317
Q

Which vitamin is needed for heme synthesis and what is its role?

A

B6, it is a cofactor for the first reaction (ALA synthase)

318
Q

How are AST and ALT relevant to starvation?

A

Transamination (they are transaminases) are needed to convert AAs (for example from muscle) such as alanine to substrates that can be used for gluconeogenesis

319
Q

What two AAs can be transaminated to make substrates for gluconeogenesis and what substrates do they make respectively?

A

Alanine can be made into pyruvate, Aspartate can be made into oxaloacetate

320
Q

Most common cause of B6 deficiency

A

INH

321
Q

Is Biotin more related to glycolysis or gluconeogenesis

A

Gluconeogenesis. It is a cofactor for pyruvate decarboxylase (which turns pyruvate to OAA, allowing the option of gluconeogenesis)

322
Q

Alopecia with a rash in a patient consuming lots of raw eggs

A

Biotin deficiency

323
Q

What does chromium do in the body?

A

Helps insulin do its job

324
Q

What does copper do in the body?

A

Plays a role in lysl oxidase (crossbridging of collagen fibrils and elastic tissue). Deficiency leads to red hair and dissecting aortic aneurysm

325
Q

What role does selenium play in the body?

A

Cofactor in HMP shunt (glutathione peroxidase reaction)

326
Q

What is the relationship between zinc and wound healing?

A

Zinc necessary for collagenase (breaks down Type 3 so it can be replaced with Type 1)

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