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MEMORIZE ME > biochem/ cell sci memorize > Flashcards

biochem/ cell sci memorize Flashcards

1
Q

DNA/ histone methylation

A

inactivates DNA transcription

uses cytosine & guanine (adenine?)

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2
Q

DNA/histone acetylation

A

activates DNA (relaxes coiling) = + transcription

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3
Q

AAs in histones?

A

lysine & arginine

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4
Q

inc GC content

A

inc melting temperature

bc G-C forms 3 H bonds (AT&U = 2 bonds)

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5
Q

nucleotides

A

base + ribose + phosphate

linked by 3’-5’ phosphodiester bond

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6
Q

AAs needed for purine synthesis?

A

GAG & THF
Glycine
Aspartate
Glutamine

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7
Q

AA needed for pyrimidine production?

A

Aspartate

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8
Q

drugs inhibiting purine synthesis

A 
hydroxyurea
6-MP
5-FU
MTX
TMP
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9
Q

Hydroxyurea MOA

A

inhibits ribonucelotide reductase

(no UDP –> dUDP) in pyrimidine synthesis

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10
Q

6-mercaptopurine

A

inhibits de novo purine synthesis

no PRPP –> IMP –> AMP + GMP

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11
Q

5-fluorouracil

A

inhibits thymidylate synthase
(no dUMP –> dTMP)
decreased dTMP = cell undergoes thymine-less death

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12
Q

Methotrexate

A 
inhibits dihydrofolate reductase (no DHF --> THF)
dec dTMP (thymidine-less death)
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13
Q

Trimethoprim

A 
inhibits bacterial dihydrofolate reductase (no DHF--> THF cofactor in dUMP --> dTMP)
dec dTMP (thymidine-less death)
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14
Q

Orotic Aciduria path

A

no orotic acid –> UMP in de novo pyrimidine synthesis pathway
defective UMP Synthase
*AR

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15
Q

Orotic aciduria Sx

A

inc orotic acid (urine)
megaloblastic anemia (NOT improved with b12 or folate)
FTT
*No hyperammonemia (vs. OTC deficiency in urea cycle– other use of carbamoyl phosphate)

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16
Q

Orotic aciduria Tx

A

oral uridine

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17
Q

Purine salvage deficiency disorders

A 
Lesch-Nyhan (XLR)-- HGPRT deficiency
SCID (AR)-- ADA deficiency
APRT deficiency (AR)
SCID-- PNP deficiency (AR)
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18
Q

Lesch-Nyhan path

A

defective pure salvage bc no HGPRT
(no hypoxanthine –> IMP, and no guanine –> GMP)
required de novo purine synthesis
build up of uric acid (end product of purine salvage)
XLR: MALES

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19
Q

Lesch-Nyhan Sx

A 
self-mutilation
hyperuricemia --> gout & nephrolithiasis
retardation
aggression
choreoathetosis
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20
Q

Adenosine deaminase deficiency (ADA)

A

no Adenosine –> Inosine
build up ATP & dATP = feedback inhibition of ribonucleotide reductase = prevent DNA synthesis = dec B & T cell count
*Result = SCID
(AR)

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21
Q

Purine nucleoside phosphorylase deficiency (PNP)

A 
causes SCID (rare)
similar to ADA but isolated T cell deficiency, normal B cells.
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22
Q

APRT deficiency

A

no adenine –> AMP
results in adenine stone urolithiasis and inc uric acid
AR

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23
Q

xanthine oxidase deficiency

A

no hypoxanthine –> xanthone
or xanthine -> uric acid
Sx: dec uric acid, inc xanthine, + xanthine urine stones

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24
Q

only AAs not under degeneracy/ redundancy rule (AAs encoded by multiple codons)

A

methionine (AUG- start)

tryptophan (UGG)

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25
Q

severity of damage in DNA point mutations

A

Frameshift > nonsense > missense > silent

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26
Q

Silent pt mutation

A

same AA, change in 3rd position = tRNA wobble

normal protein formed

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27
Q

Missense pt mutation

A

changed AA = base substitution
similar to AA (conservative)
may be dysfxnal protein, but same size

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28
Q

nonsense pt mutation

A

change = early STOP codon

shorter, non functional protein

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29
Q

frameshift mutation

A 
misreading downstream (deletion or insertion)
shorter, nonfunctional protein
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30
Q

splice site mutation

A 
retains introns
larger proteins, but nonfunctional
retain immunoreactivity (detected by Abs)
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31
Q

DNA ligase forms what bond

A

phosphodiesterase bonds

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32
Q

DNA pol I

A

prok only
excises RNA primer with 5’->3’ exonuclease,
replaces it with DNA

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33
Q

DNA pol III

A

prok only
elongates leading by adding dNT to 3’ (5’->3’ synth)
elongates lagging until primer reached, then insert 3’->5’ exonuclease to proofread

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34
Q

which drug inhibits topoisomerase = increased supercoils during replication

A

fluoroquinolones

inhibits DNA gyrase (prok top II)

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35
Q

UV light causes dimer of what? Repaired by?

A

thymine (pyrimidine dimers)

repaired by UV-endonuclease = nucleotide excision repair

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36
Q

Mutated nucleotide excision repair?

A 
Xeroderma pigmentosum
AR* mutated endonucleases
inc risk CA, severe sunburn, solar keratoses, corneal ulcers. avoid sun (child of the night)
Tx- 5-FU, cryotx
MC- japan
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37
Q

which enzymes do base excision repair

A

glycosylases (recognize & remove)
endonuclease (cuts DNA w/o base, removes empty sugar, fills gap and reseals)
*repair toxic deamination

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38
Q

Which disease has mutated mismatch repair?

A

HNPCC (Lynch Syndrome)
AD*
80% chance CRCA by 50 yo, inc risk other CA (esp endometrial)

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39
Q

What disease has mutated nonhomologous end joining?

A

Ataxia Telangiectasia
AR* mutated ATM gene (cannot repair ds-breaks)
TRIAD– ataxia, telangiectasias, IgA deficiency

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40
Q

chain terminator Rx have what modified?

A

3’ OH position
inhibits addition of next NT
blocks DNA replication

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41
Q

stop codons (mRNA)

A

UGA, UAA, UAG

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42
Q

promotor region

A

TATA & CAAT boxes upstream

A-T rich

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43
Q

transcription factors bind where?

A

enhancer regions
alters gene expression
(repressors bind at silencer locations to dec gene expression)

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44
Q

post-transcriptional RNA processing

A

5’ cap (7-methylguanosine)
poly-A tail (200 A’s at 3’) (no template needed)
splicing out DNA introns (via snRNPs & lariats) (Lupus = Auto-ABs to snRNPs)

  • after completed, becomes mRNA then transport out of nucleus
  • splicing mutations = alternative splicing (seen in beta-thal)
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45
Q

tRNA structure

A

CCA @ 3’ end

add AAs via covalent bond

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46
Q

charging of tRNA

A

aminoacyl-tRNA synthetase (1 per AA) = matchmaker w/ ATP to form peptide bond
*accuracy of AA selection

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47
Q

which drug prevents aminoacyl-tRNA attachment

A

Tetracyclines

bind 30S subunit

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48
Q

anticodon end of tRNA reads/

A

CAU (5’ to 3’) to match up with AUG mRNA start codon

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49
Q

4 stages of protein synthesis

A

1) initiation (IF + GTP, assemble 40S)
2) elongation (amino-acyl tRNA binds a A, ribozyme rRNA catalyzes peptide bond formation & transfers peptide)
3) translocation (ribosome advances 3 NTs and moves peptidyl tRNA to P site, exits via E site)
4) termination (stop codon recognize by release factor, complete protein released from ribosome)

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50
Q

Protein synthesis inhibitors

A

1) aminoglycosides– 30S inhibitors of initiation complex. cause mRNA misreading
2) Tetracycline– 30S blocks aminoacyl- tRNA from entering A site
3) Chloramphenicol– 50S, inhibits peptidyl transferase via ribosomal rRNA
4) Macrolides– 50S, prevent uncharged tRNA release after donated (stuck at E site)

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51
Q

Post-translational modifications

A

1) cleavage/ trimming (proenzymes –> enzymes)
2) covalent alterations (-ation)
3) Ubiquitin tag for defective (proteosomal degradation)

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52
Q

tumor suppressor genes in G1 to S

A

p53
un-P Rb (P via cyclin-CDK to allow progression to S phase)
*both inhibit G1–> S
*mutated = always P-Rb, mut p53 = unregulated cell division

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53
Q

Permanent cell types

A

always in G0
only hypertrophy, no hyperplasia
*neurons, sk muscle, cardiac muscle, RBC

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54
Q

Stable/ Quiescent cell types

A

in G0 until stimulated to enter G1
may hypertrophy & hyperplasia
*hepatocytes, lymphocytes, smooth muscle

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55
Q

Labile (stem cell) types

A

never enter G0, short G1 phase = rapid division
*BM, gut epi (base of crypts), skin BM, hair follicles, germ cells
(commonly complication of CA drugs bc inactivate rapidly dividing cells)

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56
Q

cells rich in RER

A

protein rich cells

ex) plasma cells (secrete AB), mucus-secreting goblet cells (SI)

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57
Q

cells rich in SER

A

steroid H production & detox–

ex) Liver hepatocytes (detox), adrenal cortex (steroid-production)

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58
Q

I-cell disease

A

AR* lysosomal storage disorder
failure of addition of mannose-6-P in golgi to lysosomal proteins
enzymes are secreted outside of cell instead of to lysosome
*Labs= inc lysosomal enzymes in plasma, + inclusion cells, empty lysosomes
*Sx= coarse facial features, clouded corneas, restricted joint mvmt. fatal in childhood.

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59
Q

drugs acting on microtubule

A 
Mebendazole/ thiabendazole (anti-helminthic)
Griseofulvin (antifungal)
Vincristine/ vinblastine (anti-CA)
Paclitaxel (anti-breast CA & ovarian CA)
Colchicine (anti-gout)
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60
Q

dyenin

A

retrograde (+ –> -)

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61
Q

kinesin

A

anterograde (- –> +)

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62
Q

Chediak-Higashi

A

AR* mutation in lysosomal trafficking regulator gene (LYST)– product req for Mt-dependent sorting of endosomal proteins into late multivesicular endosomes
(cannot fuse phagosome w/ lysosome)
*TRIAD:
recurrent pyogenic infxns, partial albinism, peripheral neuropathy

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63
Q

alpha-amanitin

A

found in amanita phalloides (death cap mushrooms)

  • inhibits RNA Pol II (mRNA- largest; opens DNA at promotor site)
  • severe hepatotoxicity
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64
Q

Kartagener’s Syndrome

A

AR* dz of primary ciliary dyskinesia
immotile cilia d/t dynein arm defect
*SX: male infertility, dec female fertility, bronchiectasis, recurrent sinusitis
*A/w: situs inversus

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65
Q

immunohistochemical stains for intermediate filaments: Connective Tissue

A

Vimentin

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66
Q

immunohistochemical stains for intermediate filaments: Muscle

A

Desmin

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67
Q

immunohistochemical stains for intermediate filaments: Epithelial cells

A

Cytokeratin

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68
Q

immunohistochemical stains for intermediate filaments: neuroglia

A

GFAP

glial fibrillary acid proteins

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69
Q

immunohistochemical stains for intermediate filaments: neurons

A

neurofilaments

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70
Q

Ouabain MOA

A

inhibits Na/K ATPase by binding to K site

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71
Q

Cardiac glycosides MOA

A

DIRECTLY inhibits Na/K ATPase
which INDIRECTLY inhibits Na/Ca exchange causing inc intracellular Ca and inc cardiac contractility

*digoxin & digitoxin

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72
Q

Type I collagen

A 
MC
bone, skin, tendon
dentin, fascia, cornea
LATE wound repair
*defective in: osteogenesis imperfecta
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73
Q

Type II Collagen

A

Cartilage (+hyaline)

vitreous body & nucleus pulposus

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74
Q

Type II Collagen

A

Reticulin– skin, bv’s
uterus, fetal tissue
*Granulation tissue– EARLY wound repair
*defective in: Ehlers-Danlos

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75
Q

Type IV Collagen

A

BM of skin or basal lamina

*defective in: Alport syndrome

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76
Q

Red safrainin O stain

A

collagen
mast cell granules
mucin red

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77
Q

Osteogenesis Imperfecta

A

AD* MC– COL1A1 & COL1A2
abnormal type I collagen– problems forming procollagen triple helix (H & disulf bonds– 3 collagen alpha chains)
brittle bone dz
Sx = multiple fx w/ minimal trauma, blue sclearae (choroidal veins), hearing loss (middle ear bone abn, dental abns (no dentin)

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78
Q

Ehlers-Danlos Syndrome

A

AR or AD*
defective collagen fibril cross-linking (lysine-hydroxylysine cross link)– MC type I & III?
*SX = hyperextensible skin, easy bleed/bruising, hypermobile joints, poor wound healing, joint dislocation, organ rupture
*A/W: berry aneurysms –> subarachnoid hemorrhage

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79
Q

Alport’s Syndrome

A

*XLR
abnormal type IV collagen = BM of kidneys, eyes and ears affected
*SX= progressive hereditary nephritis, deafness, ocular distubrances
(Cant pee, cant see, cant hear)

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80
Q

elastin rich in which AAs?

A

proline & glycine

non-hydroxylated

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81
Q

Marfan’s Syndrome

A 
*AD
fibrillin defect (elastin)
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82
Q

Alpha1-antitrypsin deficiency

A

*co-dom
no elastase inhibition = inc elastin breakdwon
*panacinar emphysema & liver dysfxn

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83
Q

Blotting procedures

A 
SNoWDRoP:
Southern = DNA
Northern = RNA
Western = Protein
Southwestern = DNA-binding protein
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84
Q

Indirect ELISA

A

uses test antigen to find patient antibody

SMOKE

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85
Q

Direct ELISA

A

uses test antibody to find patient antigen

FIRE

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86
Q

Karyotyping uses chromosomes in what phase?

A

metaphase

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87
Q

Codominance

A

both alleles contribute to phenotype of heterozygote
ex) Blood Groups A, B, AB
alpha-1 antitrypsin deficiency

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88
Q

Variable expressivity

A

phenotype varies among individuals with same genotype

ex) NF1 varying disease severity

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89
Q

Incomplete penetrance/ phenotype

A

not all with mutant genotype show mutant phenotype

ex) BRCA-1 mutation does not always result in breast/ovarian CA

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90
Q

Pleiotrophy

A

one gene contributes to multiple phenotypic effects (seemingly unrelated)
ex) PKU sx of MR and hair/skin changes

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91
Q

Imprinting

A

gene expression differences depend on whether mutation is of maternal or paternal origin
Ex) prader-willi and angelman’s syndrome

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92
Q

Anticipation

A

inc severeity & earlier onset of disease in succeeding generations
ex) trinucleotide repeat d/o = Huntingtons

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93
Q

Loss of heterozygosity

A

if patient inherits or develops mutatation in a TSG (NOT oncogenes), complementary allele must be deleted/mutated before CA develops.
ex) Rb w/ 2-hit hypothesis, Li-Fraumeni

94
Q

Dominant negative mutation

A

heterozygote produces nonfunctional altered protein that also prevents normal gene product from functioning
ex) transciption factor mutation in its allosteric site

95
Q

Linkage disequilibrium

A

tendency for certain alleles at 2 linked loci to occur together. closely located on DNA same strand.
ex) population– not familial measurements

96
Q

Mosaicism

A

presence of 2+ different cell lines in the body giving genetic mutation in offspring but not parents.
may be due to post-fertilization loss, change during mitosis, gonadal/ germ-line.

97
Q

Locus heterogeneity

A

mutations at different genotype loci can produce the same phenotype

ex) Marfan’s, MEN 2B and homocystinuria = MARFAN HABITUS
ex) albinism, muscular dystrophy (Duchenne’s and Becker’s)

98
Q

Heteroplasmy

A

presence of both normal & mut mtDNA = variable expression in mitochondrial inherited dz
ex) MERRF, SSE, LOHN, DAD

99
Q

Somatic mutation

A

acquired alteration of somatic cell DNA–

cannot be passed to offspring.

100
Q

Polyploidy

A

more than 2 complete sets of homologous chromosomes exist within an organism/ cell
ex) partial hydatidiform mile, trisomies

101
Q

Uniparental disomy

A

2 copies of chrom from 1 parent, and no copies from other parent.
Heterodisomy = meiosis I error
Isodisomy (homo) = meisosis II error
ex) normal phenotype– AR dz with only one parent as carrier or PW/Angelmans

102
Q

Freq in XLR dz according to HW pop gene?

A 
males = q
females = q^2
103
Q

Prader-Willi

A
  • deleted paternal allele (Ch. 15), only maternal allele at a locus
  • SX= hyperphagia, obesity, hypotonia, hypogonadism, MR, facial changes
104
Q

Angelman’s Syndrome

A

*deleted maternal allele (Ch. 15)
*SX= inappropriate laughter, smiling, hand flapping, seizures, ataxia & MR
(Happy puppet syndrome)

105
Q

Autosomal dominant are MC d/t?

A

defects in structural genes

  • later & less severe than AR, more pleiotrophic
  • if hetero mom & hetero dad = 75%, if hetero mom & homo R dad = 50%
106
Q

Autosomal recessive are MC d/t?

A

enzyme deficiencies
more severe than AD, present earlier
*2 carrier parents = 25%

107
Q

XLR disease

A

no male-to male transmission

carrier mom = 50% son dz

108
Q

XLD

A

all Female offspring of dad affected, either male or female offspring of mom affected
ex) hypophosphatemic rickets, Rett’s Fragile X

109
Q

Hypophosphatemic Rickets

A

*XLD
Vit-D resistant rickets
inc phosphate wasting at proximal tubule w/ rickets presentation

110
Q

mitochondrial dz

A

d/t failures in oxidative phosphorylation
all offspring of affected mom
heteroplasmy = variable expression

111
Q

Mitochondrial myopathy

A

rare mitochondrial inheritance and mutated mitochondrial function
Sx = myopathy and CNS dz
Muscle BX = ragged red fibers

112
Q

Achondroplasia

A

*AD
FGF- receptor 3 (pt mutation Arg for Gly at 375 position) on Ch 4
cell-signaling defect
*SX= dwarfism, normal trunk, short limbs, large head
a/w: inc paternal age

113
Q

ADPKD

A

*AD
mutated PKD1 on Ch 16 (85%)
SX: b/l massive enlargement of kidneys bc multiple large cysts. + flank pain, hematuria, HTN, progressive RF
a/w: berry aneurysms, MVP, polycystic liver dz

114
Q

FAP

A

*AD
APC gene mutation- Ch. 5
colon covered in adenomatous polyps after puberty. 100% progress to CRCA unless resected

115
Q

Familial hypercholesterolemia

Hyperlipidemia Type IIA

A

*AD
defective/absent LDL receptor = inc LDL
SX = het- 300 chol, homo-700+ chol., severe ATH, tendon xanthomas (achilles), MI before 20 yo.

116
Q

Hereditary Hemorrhagic telangiectasia

Osler-Weber-Rendu Syndrome

A

*AD
BV inherited disorder
SX = telangiectasias, AVMs, skin discolorations, recurrent epistaxis

117
Q

Hereditary Spherocytosis

A

*AD
defect in membrane proteins– spectrin or ankyrin = spheroid RBC
SX = hemolytic anemia, splenomegaly, aplastic crisis (parvo infxn)
Labs = inc MCHC & RDW, spherocytes
Test = + osmotic fragility (lyse at hypotonic NaCl before normal RBC)
TX = splenectomy

118
Q

Huntington’s Dz

A

*AD
trinucleotide repeat of CAG at Ch. 5
dec levels of GABA & ACh & caudate atrophy
SX = depression, progressive dementia, choreiform mvmnts. ages 20-50.

119
Q

Marfan’s Syndrome

A

AD
mutation in Fibrillin-1 gene (Ch. 15) - defective elastin (CT disorder)\
SX= tall w/ long ext, pectus excavatum, hypermobile joints, arachnodactyly, cystic medial necrosis of aorta –> aortic incompetence & dissecting AA, floppy mitral valve –> MVP. lens ectopy/subluxation, high arch, facial abn (crowded teeth, narrow face)

120
Q

MEN Syndromes

A

*AD
MEN 2A & 2B = ret gene mut
familial endocrine tumors

121
Q

Neurofibromatosis type I

Von Recklinghausen’s Dz

A

*AD
NF 1 gene on long arm of Ch. 17 mut
SX = cafe-au-lait spots, neural tumors, Lisch nodules (iris hamartomas- pigmented), skeletal disorders (scoliosis), optic gliomas.

122
Q

Neurofibromatosis type II

A

*AD
NF2 gene on ch. 22
SX = B/L acoustic neuromas, juvenile cataracts

123
Q

Tuberous Sclerosis

A 
*AD (imcomplete penetrance- variable presentation)
facial lesions (adenoma sebaceum), hypopigmented ash leaf spots of skin, cortical & retinal hamartomas, seizures, MR< renal cysts and renal angiomyolipomas, cardiac rhabdomyomas, inc asctrocytomas.
124
Q

von Hippel-Lindau dz

A 
*AD
VHL gene (TSG) on Ch. 3p = constitutive expression of HIF (tx f) and activation of angiogenic growth factors
Sx = hemangioblastomas of retina, cerebellum, medulla, b/l RCC, other tumors
125
Q

Myotonic dystrophy

A

*AD
CTG trinucleotide repeat (3’ untranslated region protein kinase)
SX = tonic contraction (shake hand and cant let go)

126
Q

Cystic Fibrosis

A 
*AR
CFTR gene (cAMP mediated) defect- Ch 7 (3 NT deletion coding for Phe at 502) causing defective Cl- channel
CFTR is abn folded = degraded before reaching CM after leaving golgi.
thick mucus secretion = plug lungs, pancreas, liver
Sx = recurrent pulm infxn (pseudomonas & S. aureus), chronic bronchitis, bronchiectasis, pancreatic insufficiency, nasal polyps, meconium ileus, male infertility, ADEK deficiencys, FTT.
Labs = Sweat test has Inc Na & Cl secretion (highly tonic), Lung has low Na & Cl secretion (isotonic = thick secretions)
127
Q

Tx Cystic Fibrosis

A

N-acetylcysteine

MOA- cleaves disulfide bonds in mucous glycoproteins = loosen mucus plugs

128
Q

Duchenne’s MD

A

*XLR
frameshift mutation = deleted dystrophin gene (DMD)
dystrophin helps anchor muscle fibers = deleted = inc muscle breakdown
*weakness begins in pelvic girdle and progressive superiorly
SX = pseudophypertrophy of calf, cardiac myopathy, before 5 yo.
DX= muscle bx: inc CPK & inc LDH

129
Q

Becker’s MD

A

*XLR
mutated dystrophin gene
less seere, onset adolescence`

130
Q

Fragile X syndrome

A 
*XLD
FMR1 gene defect in methylation & expression
trinucleotide repeat (CGG)
SX = macro-orchidism, long face, large jaw, lg everted ears, autism, MVP, MR (2MCC genetic MR)

*FMR = Fragile Mental Retardation & Fragile XL balls

131
Q

Trinucleotide repeat dz

A

Huntington’s Dz = CAG (AD)
Myotonic dystrophy = CTG (AD)
Friedreich’s ataxia = GAA (AR)
Fragile X syndrome = CGG (XLD)

*all have anticipation & neuro sx

132
Q

Sickle- cell

A

pt mutation involving thymidine replaced by adenine codes for valine instead of of glutamic acid in 6th position of beta-globin chain

133
Q

beta thal major

A

pt mutation produces stop codon = termination of DNA transcription of beta-globin chain

134
Q

Cri-du-chat syndrome

A

microdeletion at short arm of Ch. 5

Sx = high pitched cry/mew, epicathal folds, severe MR, microcephaly, VSD (cardiac abn)

135
Q

Williams Syndrome

A

microdeletion of long arm of Ch. 7 (elastin gene deleted)
SX = elfin facies, intellectual disability, hypercalcemia (inc Vit D sensitivity), well-developed verbal skills, extreme friendliness w/ strangers, cardiovascular abn

136
Q

Cardiac defect assoc with DiGeorge Syndrome?

A

Truncus arteriosus

137
Q

Cardiac defect assoc with Cri-du-chat?

A

VSD

138
Q

Cardiac defect assoc with Down’s?

A

ASD– esp ostium primum

139
Q

Vit A deficiency

A

night blindness

dry skin

140
Q

Vit A toxicity

A

teratogen (cardiac abn & cleft palate)

arthralgias, fatigue, HA, skin changes, sore throat, alopecia.

141
Q

Vit A tx

A

measles
AML (M3)
acne & wrinkles

142
Q

Vit B1 Deficiency

Thiamine

A

Dry beriberi = polyneuritis, symmetrical muscle wasting & peripheral nerve inflammation
Wet beriberi = high output cardiac failure (dilated cardiomyopathy), edema
Wenicke-Korsakoff = COAT-RACK (medial dorsal thalamus nucelus damage + mamillary bodies)

*fxns in decarboxylation rxns (pyruvate DH, AKG, transketolase, BC-AA DH) = impaired glucose breakdown = ATP depletion
(aerobic tissues affected 1st = heart & brain)

143
Q

Vti B2 Deficiency

Riboflavin

A

Cheilosis, corneal vacularization

stomatitis, dermatitis, arabinoflavinosis

144
Q

Vit B3 deficiency

Niacin

A

Pellagra = Diarrhea, Dermatitis, Dementia
may be caused by: Hartnup dz (dec tryp absorption), malig carcinoid syndrome (inc thryp metab), INH (dec B6)

*niacin derived from tryptophan and req Bt6 & B2 to synthesize

145
Q

Vit B3 excess

niacin

A

facial flushing

-seen with doses to tx hyperlipidemia

146
Q

Vit B5 deficiency

pantothenate

A

dermatitis, enteritis, alopecia

adrenal insufficiency, peripheral neuropathy

147
Q

Vit B6 Deficiency

pyridoxine

A 
Colvuslions, hyper-irritability, peripheral neuropathy
sideroblastic anemia (impaired Hb synth & Fe excess)

*may be induced by INH & OCPs

148
Q

Vit B7 Deficiency

biotin

A

dermatitis, alopecia, enteritis.
(rare)
*caused by ABX & raw egg ingestion (avidin)
*B7 = cofactor for carboxylation (+C)

149
Q

Vit B9 Deficiency

Folic Acid

A

megaloblastic (macrocytic) anemia
NO neuro sx
neural tube defects
*MC vit deficiency in USA- esp ETOHism & preg
* deficiency caused by: MTX, phenytoin, sulfonamides, OCPs, ETOH

source– foliage, leafy greens
storage– liver 2-4 mo, small pool.
absorbed– jejunum

150
Q

Vit B12 Deficiency

Cobalamin

A

Megaloblastic (macrocytic) anemia
+Neuro Sx = paresthesias (shock-like sensation radiating down), confusion, irritability, subacute combined degeneration = abn myelin (irreversible neuro sx)
low blood glu?

*caused by: malabsorptive dz (sprue, enteritis, Diphyllobothrium latum), pernicious anemia/ gastric bypass (no IF), no terminal ileum (Crohn’s), vegetarians, elderly, ETOHism

source– animal products (synth by microbes)
storage– long, 2-4 hrs, large at liver
absorbed– terminal ileum

151
Q

Vit C deficiency

Scurvy

A

impaired hydrolyation of proline & lysine in collagen synthesis
SX = swollen painful gums, bruising, hemarthrosis, anemia, subperiosteal hematoma, hyperkeratotic papular rashes, poor wound healing, weakened immune response
*no fruits & veggies

152
Q

Vit C excess

A

inc risk Fe toxicity (facilitates Fe absorption at duodenum– in reduced 2+ state)
N/V/D, fatigue, sleep abns
*Hemochromatosis (primary) or transfusions

153
Q

Vit D deficiency

A

*dec Ca & PO4 intestinal absorption & decreased bone mineralization (osteoid)
Rickets (children) = bone pain & deformity
Osteomalacia (adults) = bone pain & mm weakness
hypocalcemic tetany

154
Q

Vit D excess

A

hypercalcemia, hypercalciuria, loss of appetitie, stupor

*common in Sarcoidosis (inc Vit D activation in epithelioid macrophages)

155
Q

Vit E deficiency

A

*no erythrocyte protection from free radical damage = RBC fragility
hemolytic anemia
muscle weakness
subacute combined degeneration

156
Q

Subacute combined degeneration

A

Vit B12 or Vit E deficiency

*posterior column & spinocerebellar tract demyelination

157
Q

VIt K deficiency

A

Neonatal hemorrhage (Inc PT & PTT, but normal BT) w/ bleeding diathesis (non-painful)

  • sterile intestines = unable to synth Vit K, not in breast milk –> given Vit K injection at birth
  • post- BS-ABX
158
Q

Zinc Deficiency

A

delayed wound healing (cofactor to replace type III collagen with type I collagen in wound repair), hypogonadism, dec adult hair (systemically), dysguesaia (distorted taste), anosmia, infertility, growth retardation, acrotermatitis enteropathica.
*predisposes to alcoholic cirrhosis

159
Q

Kwashiorkor

A

protein malnutrition = fluid extravasation

*edema, liver malfxn (fatty change bc low apolipoprotein synth), skin lesions, anemia.

160
Q

Marasmus

A

energy malnutrition

tissue & muscle wasting, loss of subQ fat, variable edema.

161
Q

Metabolism in Mitochondria

A

TCA Cycle,
Oxidative Phosphorylation
fatty acid oxidation (beta)
acetyl-CoA production

162
Q

Metabolism in Cytosol

A 
Glycolysis
Protein synthesis (RER)
steroid synthesis (SER)
cholesterol synthesis
fatty acid synthesis
HMP shunt
163
Q

metabolism in both mitochondria & cytosol

A

Heme synthesis
Urea cycle
Gluconeogenesis

164
Q

arsenic

A

inhibits lipoic acid (cofactor for pyruvate dehydrogenase)

SX = garlic breath, rice water stools, vomiting

165
Q

Pyruvate DH complex

A

B1, B2, B3, B5 & lipoic acid

166
Q

Fed state

A

inc insulin –>
dec cAMP, dec Protein kinase A, dec FBPase-2, inc PFK-2
inc glycolysis (put glucose into storage)
dec gluconeogenesis

167
Q

Fasting state

A

inc glucagon –>
inc cAMP, inc PKA, inc FBPase-2, dec PFK-2
dec glycolysis (keep in circulation) & inc gluconeogenesis

168
Q

Pyruvate DH complex deficiency

A

*XLR
mutated gene for E1-alpha subunit of Pyruvate DH complex
causes substrate backup (inc pyruvate & alanine) = LACTIC ACIDOSIS
SX = neuo sx in infancy
TX = inc ketogenic nutrients (high fat diet + lys & leuc AA’s)

169
Q

order of TCA cycle substrates

A

Pyruvate –> acetyl-CoA –> citrate –> isocitrate –> aKG –> succinyl-CoA –> succinate –> fumarate –> malate –> oxaloacetate

  • Citrate is kreb’s starting substrate for making oxaloacetate
  • 10 ATP/acetyl-CoA
170
Q

ATP production

A

3 ATP/ NADH
2 ATP/FADH2
1 ATP/GTP

171
Q

Electron Transport Inhibitor in ETC- MOA

A

directly inhibit electron transport = dec proton gradient & blocks ATP synthesis

172
Q

Rotenone

A

blocks Complex I electron transport

173
Q

Cyanide & CO

A

blocks Complex IV electron transport

174
Q

Antimycin A

A

blocks Complex III electron transport

175
Q

ATPsynthase (complex V) inhibitor in ETC

A

directly inhibits mitochondrial ATPsynthase. increases proton gradient = no ATP produced bc electron transport stops
ex) Oligomycin

176
Q

Uncoupling agents in ETC

A

increase permeability of membrane causing dec in proton gradient and inc in O2 consumption.
ATP syntehsis stops, but ET continues.
produces HEAT = fever.
ex) 2,4- Dinitrophenol (DNP), ASA (fever after ASA OD), thermogenin in brown fat

177
Q

result of deficiency of key gluconeogenic enzymes

A

hypoglycemia

pyruvate carboxylase, PEP carboxykinase, F16BP, G6P

178
Q

Chronic Granulomatous Disease

A

*XLR
NADPH oxidase deficiency
inc risk infxn by catalase+ species (S. aureus, Aspergillus, E. coli & Serratia) bc neutralize H2O2 = NO ROI in neutrophils and monocytes (no macrophages)
no respiratory burst = microbiocidal deficiency

*NBT dye test = neutrophils fail to turn blue

179
Q

Myeloperoxidase deficiency

A

*AR
cannot combo Chloride & H2O2 to make bleach. normal ROIs, respiratory burst.
normal NBT dye test

180
Q

G6PDH Deficiency

A

*XLR
low NADPH = less glutathione reduced (GSH) by glutathione reductase
less glutathione in reduced form = less free radical & peroxide deoxification via Gluathione peroxidase = poor defense against oxidizing agents.
causes HEMOLYTIC ANEMIA (intra & extra cellular)

181
Q

MC human enzyme deficiency

A 
G6PD deficiency
(MC amongst blacks)
182
Q

Labs in G6PDH

A

1) Heinz Bodies (oxidized, precipitated Hb in RBCs)
2) Bite Cells (splenic macrophage removal)
3) inc UCB (+ jaudice)
4) Inc retic ct
5) hemoglobinuria & dec haptoglobin

183
Q

Agents that precipitate G6PD attack

A

precipitated by: oxidizing agents

sulfonamides, primaquine (anti-malarials), anti-TB, dapsone, fava beans, infxn

184
Q

Essential frustosuria

A

*AR
defect = frucotokinase
Sx = benign/ asx bc fructose not trapped in cells
Labs = fructose in blood & urine

185
Q

Fructose intolerance

A

*AR
defect = aldolase B
path = accumulation of F1P = dec available P = inhibits glycogenolysis and glyconeogenesis
Sx = hypoglycemia, cirrhosis, jaundice, vomit
Tx = low intake of fructose and sucrose (F+G)

186
Q

Galactokinase deficiency

A

*AR
defect = galactokinase
causes galactitol accumulation with galactose consumption
Sx = galactose in blood/ urine + infantile cataracts, failure to track objects or develop social smile
(analogous to essential fructosuria)

187
Q

Classic Galactosemia

A

*AR
Defect = galactose-1-P Uridylyransferase
accumulation of toxic substances (G1P & galactitol) in lens of eye
SX = jaundice, hepatomegaly, MR, FTT & infantile cataracts
Tx = avoid dietary galactose & lactose (Gal + Glu)

188
Q

analogy with galactose & fructose

A

Fructose is to Aldoase B as Galactose is to UridylTransferase
(FAB GUT)
(and kinases go together)

189
Q

tissues lacking sorbitol dehydrogenase

A

schwann cells, retina, lens, kidney
*sorbitol cannot become fructose = builds up in cell = osmotic damage
damage = cataracts, retinopathy, peripheral neuropathy (DM)

190
Q

substrates of urea cycle

A

Ornithine –> citrulline (via ornithine transcarbamoylase + carbamoyl phosphate) –> + aspartate (donates NH4) –>arginosuccinate –> fumarate (leaves) –> arginie –> urea (leaves) –> ornithine

(Ordinarily, Careless Crappers Are Also Frivolous About Urination)

191
Q

Ammonia Intoxication

A 
causes = liver dz (acquired), urea cycle enzyme def (hereditary)
result = excess NH4+ = depleted alpha-ketoglutarate = TCA cycle inhitited
Sx = asterixis, tremor, slurred speech, somnolence, vomiting, blurred vision, cerebral edema
192
Q

Tx ammonia intox

A

1) limit protein in diet
2) benzoate or phenylbutyrate (bind AA = excretion)
3) lactulose (acidify GI tract & trap NH4)

193
Q

Ornithine transcarbamolyase (OTC) deficiency

A

*XLR
MC urea cycle D/O
cannot eliminate ammonia (no ornithine –> citrulline w/ carbamoyl phosphate). excess carbamoyl phosphate converted to orotic acid (pyrimidine synthesis pathway)
Labs = inc orotic acid (blood & urine), dec BUN, inc ammonia (+Sx)

194
Q

PKU

A

*AR
low phenylalanine hydroxylase or tetrahydrobiperin (THB) cofactor
Tyrosine becomes essential (Phe –> tyr blocked).
Aromatic AA metabolism D/O
Labs = phenylketones in urine (phenulacetate, phenullactate, phenylpyruvate)
SX = MR, GR, Seizures, Fair skin, eczema, musty body odor
Tx = low dietary phenylalanine (no aspartame) and inc tyrosine in diet

195
Q

Maternal PKU

A

lack of dietary tx in pregnancy

Infant = microcephaly, MR, GR, congenital heart defects

196
Q

Alkaptonuria

ochronosis

A

AR*
congenital deficiency of homogentisic acid oxidase (tyr –> fumarate)
SX = dark CT, brown sclera, black urine with air exposure, debilitating arthralgias (acid toxic to cartilage)

197
Q

Albinism

A

classically AR* (but variable inheritance = locus heterogeneity)
1) tyrosinase deficiency (tyr –> melanin)
2) defective tyrosine transporters (low tyr & melanin)
*may be d/t lack of migration of neural crest cells
NO melanin = inc risk of skin CA

198
Q

Homocystinuria (3 types)

A
  • AR
    1) cystathione synthase deficiency (no homocysteine –> cystathione –> cysteine) w/ B6 cofactor
  • TX = inc Cys, dec Met, inc B12 & folate dietary
    2) low affinity of CS for B6 (pyridoxal phosphate)
  • TX = inc dietary B6
    3) Homocysteine methyltransferase (req B12)- may cause megaloblastic anemia
  • TX = inc dietary B12

**all types inc homocysteine & cysteine becomes essential

199
Q

Homocystinuria sx

A

SX = inc homocysteine in urine (excess), MR, Osteoporosis, tall stature, kyphosis, lens sublux (down & in), ATH (stroke & MI)

200
Q

Cystinuria

A

AR*
renal tubular AA transport defect at PCT for COLA enzymes
(cysteine, ornithine, lysine & arginine)
causes excess cystine (2 cysteine w/ S-S bond) in urine = hexagonal crystals & staghorn caliculi
TX = hydration, urinary alkalinization

201
Q

Maple Syrup Urine Disease

A

*AR
blocked degradation of brached-chain amino acids (alpha 1,6) = Ile, Leu & Val
due to dec alpha-ketoacid dehydrogenase (or B1 deficiency– cofactor) = cannot decarboxylate AAs
increases alpha-ketoacids in blood (esp Leu)
Sx = severe CNS defects, MR, death, urine smells like burnt sugar/ maple syrup

202
Q

Hartnup dz

A

*AR
defective NEUTRAL AA transporter on renal & intestinal epithelial cells
Result = tryp urinary excretion, dec tryp gut absorption (tryp in poop)
Sx = Pellagra (dermatitis, dementia, diarrhea) = b3 deficiency bc derived from Tryp

203
Q

Glycogen Storage Disease Types

A 
all accumulate glycogen within cells
all are AR*
type 1) Von Gierke's
type 2) Pompe's
type 3) Cori's
type 4) Andersen
type 5) McArdle's
type 6) Her's

*Viagra Pills Cause A Major Hardon

204
Q

Von Gierke’s Dz (type I GSD)

A

Deficiency = glucose-6-phosphatase
(no G6P -> Glu)
Sx = severe fasting hypoglycemia, inc glycogen in liver, inc blood lactate, hepatomegaly, gout

205
Q

Pompe’s Dz (type II GSD)

A

Deficiency = lysosomal alpha-1,4 glucoside (acid maltase)
(defective lysosomal degradation of glycogen to glucose)
Sx= cardiomegaly, systemic findings, early death

TRASHES THE POMP (heart, liver, mm)

206
Q

Cori’s Dz (Type III GSD)

A 
Deficiency = debranching enzyme (alpha-1,6-glycosidase)
SX = milder form on Von Gierkes -- gluconeogenesis is intact, but still dec glucose, FTT, hepatomegaly, normal EKG
207
Q

Andersen’s Dz (type IV GSD)

A

deficiency = branching enzyme

208
Q

McArdle’s Dz (Type V GSD)

A

deficiency = glycogen phosphorylase in skeletal muscle
(no glycogen -> glu-1-P)
Sx = inc muscle glycogen but cannot break it down–> painful muscle cramps & myoglobinuria with strenous exercise

McArdles = MUSCLE

209
Q

Her’s Dz (type IV GSD)

A

deficiency = glycogen phosphorylase in the liver

210
Q

Lysosomal Storage Disease Types

A

lysosomal enzyme deficiencies = accumulate abnormal metabolic products
*all AR, except Fabry’s and Hunter’s
subcategories:
1) Sphingolipidoses (Fabrys, Gauchers, Niemann-Pick, Tay-Sachs, Krabbe’s, Metachromatic Leukodystrophy)
2) Mucopolysaccharidoses (Hurlers & Hunters)

211
Q

Fabry’s Disease

A 
Deficient = alpha-galactosidase A
Accumulate = Ceramide Trihexose
Sx = perhipheral neuropathy (burning/shooting pains), angiokeratomas (red/blue dots), corneal/lenticular changes, cardiovascular/renal dz, febrile episodes
*XLR = MC in males
212
Q

Gaucher’s Dz

A

Deficient = Glucocerebrosidase (ch.1q21)
Accumulate = Glucocerebroside
SX = bone crises, aseptic necrosis of fever, osteopenia, anemia, TCP, hepatosplenomegaly
Labs = Gaucher’s cells (macrophages w/ crumpled tissue paper*)
*MC LSD

213
Q

Neimann-Pick Dz

A 
Deficient = Sphingomyelinase
Accumulate = Sphingomyelin
SX = Cherry-red macula spot, hepatosplenomegaly*, progressive neurodegeneration, FTT & microcephaly, death by 2-3 yo
Labs = FOAM CELLS*
214
Q

Tay-Sachs Dz

A 
Deficient = hexosaminidase A
accumulate = GM2 ganglioside
Sx = cherry-red macula spot, progressive neurodegeneration, NO HSM, dvt delay
Labs = ONION SKIN lysosomes
215
Q

Krabbe’s Dz

A 
Deficient = Galactocerebrosidase
Accumulate = Galactocerebroside
SX = pereipheral neuropathy, optic atrophy, developmental delay
Labs = GLOBOID cells
216
Q

Metachromatic Leukodystrophy

A 
Deficient = Arylsulfatase A
Accumulate = Cerebriside sulfate (sulfatides)
Sx = demyelination-- central & peripheral = ataxia & dementia
217
Q

Hurler’s Syndrome

A 
Deficient = alpha-L-iduronidase
Accumulate = Heparin Sulfate & Dermatan Sulfate
Sx = gargoylism, MR, dvt delay, airway obstruction, hepatosplenomegaly, corneal clouding
218
Q

Hunter’s Syndrome

A

*XLR
deficient = Iduronate sulfatase
accumulate = heparan sulfate, dermatan sulfate
SX = mild Hurler’s + aggression, NO corneal clouding

219
Q

Ashkenazi Jews

A

inc incidence of:
Tay-Sachs
Niemann-Pick
Gaucher’s

220
Q

Carnitine deficiency

A

inability to transport LCFAs (acyl-CoA) into mitochondria (via carnitine shuttle) = toxic accumulation of LCFAs
no beta-oxidation breakdown of acyl-CoA into ketone bodies or TCA cycle
SX = hypoketotic hypoglycemia, hypotonia, weakness

221
Q

Acyl-CoA DH Deficiency

A

defective beta-oxidation of acyl-CoA into ketone bodies (usually medium chain def)
SX = hypoglycemia (glu = 45), confusion, lethargy, N/V but NO KETONES in STARVATION

222
Q

Statins

A

inhibit HMG-CoA Reductase
(RLS of cholesterol synthesis)
blocks conversion of HMG-CoA to mevalonate

223
Q

Chylomicron

A

dietary TG to peripheral tissue, cholesterol to liver as remnants (w/o TAGs)
sec by intestinal epi
Secretion mediated by Apo B-48 (and C-II)
Apo-E mediates chylomicron remnant uptake

224
Q

VLDL

A

hepatic TGs to peripheral tissue
secreted by liver
+APO E, C-II, B-100

225
Q

IDL

A

due to VLDL degradation
delivers TGs and chol to liver
Apo E & B100

226
Q

LDL

A

hepatic cholesterol to peripheral tissue
formed by hepatic lipase modification of IDL in periphery
taken up via receptor-mediated endo (+Clathrin)
only APO-B100 +*
only one without APO-E

227
Q

HDL

A

reverse cholesterol transport (periphery to liver)
apoC & apoE repository
liver & intestine secrete
APO E+, C-II+ & A-1+*

228
Q

Familial Dyslipidemia Types

A

Type I = hyperchylomicronemia (AR)
Type IIa = familial hypercholesterolemia (AD)
Type IV = hypertriglyceridemia (AD)

229
Q

Hyperchylomicronemia

type I hyperlipidemia

A

AR
LPL (lipoproteinlipase) deficiency OR altered Apo-C-II
SX = pancreatitis, hepatosplenomegaly, eruptive/pruritic xanthomas
NO INC RISK ATH

230
Q

Familial Hypercholesterolemia

Type IIa hyperlipidemia

A

*AD
Absent/ dec LDL receptors
Sx = accelerated atherosclerosis, tendon xanthomas (Achilles), corneal arcus

231
Q

Hypertriglyceridemia

Type IV hyperlipidemia

A

*AD
hepatic overproduction of VLDL
SX = pancreatitis

232
Q

Abetalipoproteinemia

A

*AR
mutated microsomal triglyceride transfer protein (MTP) gene = dec APO-B48 & APO-B100
causes decreasd VLDL and chylomicron synthesis and secretion
BX = lipid accumulation in enterocytes (foam cells) = cannot export lipids as chylomicrons
Sx = FTT, steatorrhea, ataxia (vit E deficiency), night blindness (vit A def), acanthocytosis (spiked membrane RBC)

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