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STEP > Biochem > Flashcards

Biochem Flashcards

1
Q

Phase during which DNA and histones are synthesized

A

S phase

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2
Q

Amino acids necessary for purine synthesis

A

Glycine, aspartate, glutamine (also folate)

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3
Q

Cytosine –> Uracil –> Thymine

A

Deamination –> Methylation

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4
Q

Bond with 3 H bonds

A

G-C

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5
Q

End of incoming nucleotide with triphosphate, attacking_____

A

5’ attacking 3’ OH

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6
Q

Nucleotides with two rings

A

Purines (AG)

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7
Q

CPS II

A

Initiates de novo pyrimidine pathway, part of CAD

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8
Q

CAD

A

CPS II, aspartate transcarbamoylase, dihydroorotase

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9
Q

CPSI vs CPS II (location, pathways, source of nitrogen, regulation)

A

1: Mitochondria, urea cycle, ammonia, activated by N-acetylgluatmate; 2: cytoplasm, pyrimidine synthesis, inhibited by UTP and activated by ATP

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10
Q

Leflunomide MOA

A

inhibitis dihydroorotate dehyndrogenase (carbamoyl phosphate + aspartate –> orotic acid), part of de novo pyrimidine pathway

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11
Q

Methotrexate and the drugs that act like it MOA

A

Methotrexate (human), TMP (bacteria), pyrimethamine (protozoa) – inhibit dihydrofolate reductase –> less dTMP, part of de novo pyrimidine pathway

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12
Q

Orotic aciduria

A

Defect in pyrimidine synthesis, UMPS deficiency (orotic acid –> UMP), megaloblastic anemia refractory to B9/B12, normal BUN/ammonia

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13
Q

Hydroxyurea MOA

A

Inhibits purine AND pyrimidine synthesis via ribonucleotide reductase (reduces 2’ carbon of ribose to make DP–>dDP)

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14
Q

5-FU MOA

A

Inhibits pyrimidine synthesis by forming 5-f-dUMP –> inhibits thymidylate synthase

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15
Q

6-MP/Azathiprine MOA

A

Disrupts de novo purine synthesis (PRPP——–>IMP)

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16
Q

Mycophenolate and ribavirin MOA

A

Inhibit inosine monophosphate dehydrogenase –> less GMP

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17
Q

Amino acids necessary for pyrimidine base production

A

Aspartate

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18
Q

HGPRT Function

A

Purine salvage, guanine/hypoxanthine –> GMP, IMP

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19
Q

HGPRT deficiency

A

Lesch Nyhan – Excess uric acid and de novo purine synthesis, x-linked recessive, sx: intellectual disability, self-mutilation/agression, hyperuricemia (orange “sand” MSU crystals in diaper), gout, dystonia; tx: allopurinol (febuxostat)

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20
Q

ADA fxn and deficiency disorder

A

Fxn: Degrades adenosine –> inosine; Disorder: SCID, –> leads to accumulation of dATP which inhibits ribonucleotide reductase, buildup of dNTPs –> toxic to lymphs, autosomal recessive

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21
Q

Amino acids with only one codon

A

Methionine and tryptophan (AUG, UGG)

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22
Q

of origins of replication

A

Bacteria: 1, humans: multiple

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23
Q

TATA box fxn

A

Origin of replication/promoters

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24
Q

Helicase mutation

A

Bloom syndrome – autosomal recessive, short stature, predisposition to cancer/genomic instability

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25
Q

Irenotecan/topotecan MOA

A

Inhibit topoisomerase I

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26
Q

Etoposide/teniposide MOA

A

Inhibit topoisomerase II

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27
Q

Fluoroquinolones MOA

A

Inhibit prokaryotic topoisomerase II (DNA gyrase) and topoisomerase IV

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28
Q

DNA Polymerase III (E/P, synthesis/prooreading)

A

P only, 5’–>3’ synthesis and 3’–>5’ exonuclease proofreading

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29
Q

DNA Polymerase I (E/P, synthesis/proofreading)

A

P only, degrades RNA primer to replace with DNA –> 5’–>3’ exonuclease (backwards from normal)

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30
Q

Telomerase is a ________

A

RNA dependent DNA polymerase (avoid loss genetic material with replication)

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31
Q

Transition

A

Purine to purine mutation or pyrimidine to pyrimidine

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32
Q

Transversion

A

Purine to pyrimidine or vice versa mutation

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33
Q

Missense

A

Nucleotide substitution –> changed amino acid (e.g. glutamic acid –> valine in sickle cell(

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34
Q

Nonsense

A

Nucleotide substitution –> early stop codon (UAG, UAA, UGA) –> nonfxnal protein

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35
Q

Examples of frameshift mutation diseases

A

DMD, Tay-Sachs

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36
Q

Splice site mutation

A

Retain intron in mRNA–> impaired/altered protein fxn (as in some cancers, dementia, epilepsy, beta-thal)

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37
Q

Base excision repair

A

Base specific glycosylase removes base –> apurinic/apyrimidinic site –> endonuclease removes backbone at 5’ end, lyase at 3’ end –> DNA polymerase beta fixes; throughout cell cycle; fixes spontaneous/toxic deamination

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38
Q

Nucleotide excision repair

A

Endonuclease cuts chunk of DNA out –> DNA polymerase and ligase fix hole, only during G1; for bulky-helix distorting lesions (e.g. pyrimidine dimers from sunlight – this is defective in xeroderma pigementosum –> BCC and other skin CA)

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39
Q

Mismatch repair

A

Newly synthesized strand mismatches removed in G2, defective in Lynch syndrome (defective 3’–>5’ endonuclease activity)

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40
Q

Start codon E/P

A

AUG (methonine for E, fMet for P –> neutrophil chemotaxis)

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41
Q

Stop codons

A

UGA, UAA, UAG

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42
Q

RNA polymerase I

A

Makes rRNA

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43
Q

RNA polymerase II

A

Makes mRNA –> inhibited by a-amanitin in amanita phalloides –> severe hepatotoxicity

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44
Q

RNA polymerase III

A

tRNA, 5’ rRNA

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45
Q

Drugs that inhibit RNA polymerases

A

E/P – actinomycin D, P only – rifampin

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46
Q

Nuclear processing of RNA

A
  1. 5’ capping (7-methylguanosine), 2. PolyA of 3’ end, 3. Splicing of introns
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47
Q

Fxn of SnRNPs

A

Splicing of pre-mRNA

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48
Q

Abs to SnRNPs

A

Anti-smith – SLE

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49
Q

Anti-U1 RNP ab

A

Mixed connective tissue disease

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50
Q

miRNA fxn

A

Post-transcriptional gene expression regulation (target 3’ UTR of mRNAs for degradation or repression) –> can cause malignancies

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51
Q

Where does amino acid bind on tRNA?

A

CCA 3’ end opposite to anticodon (acceptor stem)

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52
Q

T-arm of RNA

A

TYC – ribothymidine, pseudouricine, cytidine –> tRNA ribosome binding (tethers)

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53
Q

D arm of RNA

A

has D (dihydrouridine) residues for tRNA recognition by correct aminoacyl tRNA synthetase (detects)

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54
Q

What initiates protein synthesis?

A

GTP hydrolysis

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55
Q

MYC fxn

A

GF –> TKr –> MYC formed –> MYC-MAX heterodimers –> bind DNA –> modulate genes promoting cell division; downregulated by MAX homodimers or MAD-MAX heterodimers; MYC accumulation where nutrient deprived or DNA damage –> apopotosis

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56
Q

Cell Cyle G0/G1

A

RB is not heavily phosphorylated – holds onto E2F

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57
Q

Cell Cycle G1

A

Cyclin D synthesized –> CDK/cD complexes –> hypophos of Rb and formation of cE –> CDK/cE complexes (cE COMPLEXES – loss of dependency on growth factor – restriction point) –> hyperphos of Rb –> E2F dissociation –> transcription of E2F genes essential for S phase (e.g. cA)

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58
Q

Cell Cycle S

A

Nuclear DNA replication; cA synthesis –> CDK/cA complexes –> activate DNA polymerase

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59
Q

Cell Cycle G2

A

Prep for cell division (syntehsize microtubules/new membranes, etc.); synthesis of cB –> CDK/cB complexes

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60
Q

Cell Cycle M

A

cB/CDK –> nuclear localization –> starts mitosis; at completion, phosphate removed from Rb

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61
Q

G1/S Checkpoint

A

DNA damage –> p53 activation –> up-regs CDKN1A gene –> increased p21 which inhibits CDKs and stimulates DNA repair; if repair successful –> p-52 induces self-degradation –> resume cell cycle; if repair unsuccessful –> p-53 induces pro-apoptotic genes (BAX) and represses pro-proliferative/anti-apoptotic genes (e.g. cyclins and BCL2) –> apoptosis

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62
Q

G2/M Checkpoints

A

Check for DNA damage before separation and after replication; damage –> cell cycle arrest via p53 and non-p53

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63
Q

Free ribosomes

A

Synthesize cytosolic and organellar proteins

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64
Q

RER

A

Synthesize secretory proteins (and add N-linked oligosaccharides)

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65
Q

Golgi additions and modifications

A

Modifies N-oligos on asparagine; adds O-oligos to serine and threonine, adds M6P for lysosomal trafficking

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66
Q

I-Cell disease

A

Deficient N-acetylglucoaminyl-`-phophotransferase –> goligi doesn’t phosphorylate mannose to traffic to lysosome –> proteins secreted into ECM –> coarse facial features, clouded corneas, restricted joint movement (like hurlers but worse) –> fatal in childhood

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67
Q

COPI

A

cis-golgi –> RER

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68
Q

COPII

A

RER –> cis-golgi

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69
Q

Clathrin

A

Plasma membrane –>endosome or trans-golgi –> lysosomes

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70
Q

Peroxisome

A

breakes down very long chain fatty acids, branched chain fatty acids, amino acids, and ethanol

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71
Q

Zellweger syndrome

A

Hypotonia, seizures, hepatomegaly, early death (peroxisomal disease)

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72
Q

Refsum disease

A

Scaly skin, ataxia, cataracts/night blindness, shortening of 4th tow, epiphyseal dysplasia (peroxisomal disease)

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73
Q

Vimentin

A

Mesenchymal tissue IF –> mesenchymal tumors (sarcoma) and endometrial carcinoma, renal cell carcinoma, meningioma

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74
Q

Desmin

A

Muscle tissue IF –> muscle tumors (e.g. rhabdomyosarcoma)

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75
Q

Cytokeratin

A

Epithelial cell IF –> epithelial tumors (e.g. SCC)

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76
Q

GFAP

A

Neuroglia IF –> Astrocytoma, glioblastoma

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77
Q

Neurofilaments

A

Neuron IF –> neuronal tumors (e.g. neuroblastoma)

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78
Q

Dynein

A

Retrograde transport (DIES away from synapse), +–>- NEGATIVE NUCLEUS

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79
Q

Kinesin

A

Anterograde transport (KINETIC towards synapse) - –> + POSITIVE PERIPHERY

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80
Q

Drugs that act on microtubules

A

Mebendazole (antihelminth), griseofulvin (antifungal), colchicine (antigout), vincristine/vinblastine (anticancer), paclitaxel (anticancer)

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81
Q

Kartagener syndrome

A

Primary ciliary dyskinesia – immotile cilia due to dynein arm defect; sx: decreased male/female fertility (immotile sperm, dysfxnal fallopian tube cilia), increased risk ectopic pregnancy, bronchiectasis, recurrent sinusitis, chronic ear infxns, conductive hearing loss, situs inversus

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82
Q

Ouabain

A

Inhibits Na/K ATPase by binding K+ site

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83
Q

Digoxin

A

Directly inhibits Na/K ATPase –> indirectly inhibits Na/Ca exhchange –> increased intracellular Ca –> increased contractility

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84
Q

Type I Collagen – location and disorder

A

bONE, skin, tendon, dentin, fascia, cornea, wound repair; osteogenesis imperfecta type I

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85
Q

Type II Collagen

A

Cartilage (hyaline), vitreous body, nucleus pulposus

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86
Q

Type III collagen – location and disorder

A

Aka reticulin – skin, blood vessels, uterus, fetal tissue, granulation tissue; vascular type III ehlers danlos

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87
Q

Type IV Collagen – location and disorder

A

Basement membrane, basal lamina, lens; defective in Alport, autoab target in Goodpasture

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88
Q

Collagen synthesis

A

Translation preprocollagen (Gly-XY – proline/lysine) –> hydroxylation of proline/lysine using vitamin C –> glycosylation of hydroxylated lysine and formation of procollagen via hydrogen/disulfide bonds (triple helix of collagen alpha chains) –> exocytosed into EXM –> cleavage of disulfide rich terminal regions into insoluble tropocollagen –> crosslinking via Cu containing lysl oxidase –> fibrils –> combine to make fibers

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89
Q

Osteogenesis imperfecta genes

A

COL1A1 and COL1A2, usually autosomal domninant

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90
Q

Osteogenesis imperfecta sx

A

Blue sclerae (translucent connective tissue), tooth abnormalities – wear easily because little dentin, multiple fractures w/ little trauma, hearing loss (abnormal ossicles) BITE

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91
Q

Ehlers Danlos (w/ types)

A

AD Faulty collagen synthesis –> easy bruising, hypermobile joints; joint dislocation, aortic aneurysms, organ rupture
Hypermobility – most common,
Classical (joint and skin) – defect in typeV collagen (COL5A1, COL5A2)
Vascular (vascular and organ rupture) – deficient type III collagen

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92
Q

Menckes disease

A

XLr – impaired copper absorption/transport – defective Menkes protein (ATP7A) –> less lysyl oxidase cross linking –> brittle kinky hair, growth retardation, hypotonia

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93
Q

Marfans

A

AD disorder, FBN1 gene mutation on chr 15 –> defective fibrillin scaffolding for elastin; sx: tall w/ long extremities, pectus carinatum/excavatum, hypermobile joints, arachnodactyly, cystic medial necrosis of aorta–> dissetive aortic aneurysms and aortic incompetence, floppy mitral valve, subluxation of lenses up and out

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94
Q

Southern Blot

A

DNA

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95
Q

Northern blot

A

RNA (mRNA – gene expression)

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96
Q

Western Blot

A

Protein

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97
Q

Southwestern blot

A

DNA binding proteins (e.g. transciption factors) using oligonucleotide probes

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98
Q

Flow cytometry

A

Detection of size, granularity, protein expression (immunophenotype)

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99
Q

Microarray

A

Can detect single nucleotide polymorphisms and copy number variations

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100
Q

ELISA

A

Detection of antigen or ab in sample (verify with western blot)

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101
Q

Karyotyping

A

Diagnose chromosomal imbalances (autosomal trisomies, sex chromosome disorders)

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102
Q

FISH

A

Detects microdeletion (no fluoresence), translocation (signal corresponds to that of another chromosome), duplication (extra signal relative to homologous chromosome)

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103
Q

Alpha 1 antitrypsin def

A

SERPINA1 on chr14, normal is PiMM, abnormal is PiZZ; codominant

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104
Q

McCune Albright – cause, sx and what makes it livable

A

Caused by mutation in G-protein signalling; sx: unilateral cafe au lait spots, polyostotic fibrous dyplasia, at least one endocrinopathy; livable because of mosaicism (otherwise lethal)

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105
Q

Locus heterogeneity

A

Mutations at DIFFERENT LOCI produce similar phenotype

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106
Q

Alleleic heterogeneity

A

DIFFERENT MUTATION at SAME LOCUS produce same phenotype

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107
Q

Heterodisomy error

A

Meiosis I – heteozygous from one parent

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108
Q

Isodisomy error

A

Meiosis II or post-zygotic chromosomal duplication– homozygous from one parent

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109
Q

Hardy-Weinberg equations

A
  1. p^2+2pq+q^2 = 1
  2. p+q=1
    p^2: freq. of homozygosity for allele A
    2pq: frew of heterozygosity (carrier freq. if autosomal recessive)
    q^2: freq. of homozygosity for allele a
110
Q

Hardy Weinberg for X-linked recessive

A

Females: q^2, males: q

111
Q

Hardy Weinberg assumptions

A
  1. No mutation occurring at the locus
    2 Natural selection is not occuring
  2. Completely random mating
  3. No net migration
112
Q

Prader Willi

A

Chr 15 PATERNAL deletion/mutation (maternally imprinted) or maternal uniparental disomy; sx: hyperphagia, obesity, intellectual disability, hypergonadism, hypotonia

113
Q

Angelman syndrome

A

Chr 15 MATERNAL deletion/mutation (paternally imprinted) or paternal uniparental disomy; sx: inappropriate laughter, seizures, ataxia, severe intellectual diability

114
Q

Autosomal dominant

A

structural genes, pleiotropic, variably expressive

115
Q

Autosomal recessive

A

Enzyme deficiencies, more severe

116
Q

Hypophosphatemic rickets

A

(Vit D resistant rickets), X-linked dominant, increased phosphate wasting at PCT –> rickets-like presentation;

117
Q

X linked dominant

A

Hypophosphatemic rickets, Alport, fragile X

118
Q

Mitochondrial inheritance often variable in expression because of ______________

A

Heteroplasmy

119
Q

Cystic fibrosis genetics

A

AR, CFTR on chr 7 (most commonly deletion of Phe508)

120
Q

CFTR gene product

A

ATP-gated Cl- channel that secretees Cl- in lungs and GI tract and reabsorbs in sweat gland – mutation –> protein stuck in RER, so less H2O and Cl secretino and increased intracell Cl –> increased Na reabosrption and increased H2O reabsorption –> abnormally thick mucus in lungs/GI tact and more neg. transepithelial potential difference

121
Q

CF presentation electrolytes

A

Decreased Cl in sweat, contraction alkalosis, hypokalemia due to ECF H2O and Na losses and concomitant renal K/H wasting

122
Q

Newborn screen for CF

A

Increased immunoreactive trypsinogen

123
Q

Complications of CF

A

Pulm infxns, pancreatic insufficiency –> malabsorption/steatorrhea/fat-soluble vit def, billiary cirrhosis, liver disease, meconium ilius in newborn; infertility in men (absence of vas deferens) and subfertility in women (mucous thick in cervix), nasal polyps, nail clubbing

124
Q

Cause of DMD

A

X linked, framshift or nonsense –> truncated/absent dystrophin –> myofiber damage

125
Q

Most common cause of death in DMD

A

Dilated cardiomyopathy

126
Q

Pathognomonic for DMD

A

Calf pseudohypertrophy and Gower’s sign (using hands to walk up their legs to stand)

127
Q

Fxn of dystrophin

A

Anchor muscle fibers in skeletal and cardiac muscle – connects intracellular actin to transmembrane dystroglycan on the extracellular matrix

128
Q

Labs in DMD

A

Increased CK and aldolase

129
Q

Becker MD

A

Non-frameshift mutation in dystrophin – less severe than duchenne

130
Q

Myotonic type 1 MD Genetics and presentation

A

AD, CTG trinucleotide repeat expansion in DMPK –> abnormal myotonin protein kinase –> myotonia, muscle wasting, cataracts, testicular atrophy, frontal balding, arrhythmia

131
Q

Fragile X genetics and presentation

A

X-Dom, trinucleotide CGG repeat in FMR1 gene –> hypermethylation–> decreased expression; inherited intellectual disability/autism, post-pubertal macroorchidism, long face and large jaw, large everted ears, mitral valve prolapse (x-tra large)

132
Q

Trinucleotide repeat diseases

A

Huntingtons (CAG), myotonic dystrophy (CTG), fragile x (CGG), Friedreich ataxia (GAA)

133
Q

Common unbalanced Robertsonian translocation –> DS

A

14 and 21

134
Q

First trimester DS

A

Increased nuchal translucency, hypoplastic nasal bone, decreased serum PAPP-A, increased free b-hCG

135
Q

Second trimester DS

A

Decreased AFP, increased bhCG, decreased estriol, increased inhibin A

136
Q

Edwards Syndrome genetics and sx

A

Trisomy 18, prominent occiput, rocker-bottom feed, intellectual dis, clenched fists w/ overlapping fingers, low set ears, micrognathia, congenital HD, death by 1yr

137
Q

Edwards syndrome quad screen

A

Decreased AFP, bhCG, estriol, and normal inhibin A

138
Q

Patau syndrome genetics and sx

A

Trisomy 13, severe intellectual dis, micropthalmia, microcephaly, cleft lip/palate, holoprosencephaly, polydactyly, cutis aplasia, congenital HD, death by 1 yr

139
Q

Patau 1st tri screen

A

Decreased free bhCG and PAPP-A

140
Q

Chr 3 disorders (2)

A

VHL, renal cell carcinoma

141
Q

Chr4 disorders (3)

A

ADPKD (PKD2), achondroplasia, Huntington

142
Q

Chr5 disorders (2)

A

Cri-du-chat, FAP

143
Q

Chr 6 disorder

A

Hemochromatosis

144
Q

Chr 7 disorders (2)

A

Williams syndrome, CF

145
Q

Chr 9 disorder

A

Freidrich ataxia

146
Q

Chr 11 disorders (4)

A

Wilms tumor, beta-globin gene defects (e.g. sickle cell, beta thalassemia), MEN1

147
Q

Chr13 disorders (4)

A

Patau syndrome, Wilson disease, retinoblastoma (RB1), BRCA2

148
Q

Chr 15 disorders (3)

A

Angelman, Prader-Willi, Marfan

149
Q

Chr16 disorders (2)

A

ADPKD (PKD1), alpha globin defects (a-thalassemia)

150
Q

Chr 17 disorders (3)

A

NF-1 (von Recklinghausen), BRCA1, p53

151
Q

Chr 18 disorder

A

Edwards

152
Q

Chr 21 disorder

A

DS

153
Q

Chr 22 disorders (2)

A

NF-2, DiGeorge (22q11)

154
Q

X Chr disorders (3)

A

Fragile X, X-linked agammaglobulinemia, Kline felter (XXY)

155
Q

Common robertsonian translocation chromosomes

A

Long arms fuse and short arms lost– 13, 14, 15, 21, 22

156
Q

Cri-du-chat genetics and sx

A

Microdeletion of short arm of chr 5; microcephaly, mod to severe intellectual dis, high pitched crying/meowing, epicanthal folds, VSD

157
Q

Williams syndrome genetics and sx

A

Microdeletion of long arm of chr 7 (includes elastin gene); sx: elfin facies, intellectual dis, hypercalcemia (increased sens to vit D), well-developed verbal skills, extreme friendliness w/ strangers, cardio probs

158
Q

22q11 deletion syndromes and sx

A

DiGeorge: thymic, parathyroid, cardiac defects
Velocardiofacial: palate, facial, cardiac defects
Due to aberrant dev of 3/4 branchial pouches

159
Q

Vit B1 – fxn and def

A

Thiamine – TPP; cofactor for dehydrogenase enzymes (pyruvate DH linking glycolysis and TCA, akg DH in TCA cycle, transketolase in HMP shunt, branched-chain ketoacid DH); def: impaired glucose breakdown –> ATP depletion made worse by glc infusion – brain/heart affected first (WK syndrome, dry beriberi, wet beriberi) – diagnosed by increased RBC transketolase activity following admin of B1

160
Q

Vit B2 – fxn and def

A

Riboflavin – FAD, FMN; cofactors in redox rxn (e.g. succinate DH in TCA) –> 2 ATP; def: cheliosis and corneal vascularization

161
Q

Vit B3 – fxn and def

A

Niacin – NAD/NADP; redox rxns, derived from tryptophan w/ B2/B6; def: glossitis, pellagra –> DIARRHEA, DEMENTIA, DERMATITIS)

162
Q

Vit B5 – fxn and def

A

Pantothenic acid – CoA; CoA is cofactor for acyl transfers and fatty acid synthase; def: dermatitis, enteritis, alopecia, adrenal insufficiency

163
Q

Vit B6 – fxn and def

A

Pyridoxine – PLP; cofactor in transamination, decarboxylation, glycogen phosphorylase, used in synthesis of cystathionine, heme, niacin, histamine, neurotransmitters (5HT, epi, NE, dop, GABA); def: convulsions, hyperirritability, peripheral neuropathy, sideroblastic anemias (impaired hemoglobin synth and iron excess)

164
Q

Vit B7 – fxn and def

A

Biotin; cofactor for carboxylation enxymes –

  1. pyruvate –pyruvate carboxylase–> oxaloacetate
  2. acetyl-CoA–acetylCoA carboxylase–>malonyl-CoA
  3. propionyl-CoA–propionyl-CoA carboxylase–>methylmalonyl CoA; def: dermatitis, alopecia, enteritis (caused by abx or excessive egg white ingestion – avidin)
165
Q

Vit B9 – fxn and def

A

Folate; converted to THF for 1-C transfer rxns – e.g in synth of DNA and RNA; absorbed in jejunum and small pool in liver; def: macrocytic megaloblastic anemia, hypersegmented PMNs, glossitis, NTD in pregnancy

166
Q

Vit B12 – fxn and def sx/causes

A

Cobalamin; cofactor for methonine synthase (CH3 group transfer) and methylmalonyl-CoA mutase – DNA synthesis; def: caused by malabsorption, lack of IF (e.g. pernicious anemia, gastric bypass), absence of terminal ileum, insufficient intake (e.g. veganism) – macrocytic megaloblastic anemia, hypersegmented PMNs, paresthesia and subacute combined degeneration (degen of dorsal columns, lateral corticospinal and spinocerebellar tracts) due to abnormal myelin –> can lead to irreversible nerve damage

167
Q

Vit C – fxn and def

A

Ascorbic acid; antioxidant and facilitates iron absorption/collagen hydroxylation, also necessary for dopamine b-hydroxylase (dop–>NE); def: scurvy –> swollen gums, bruising, petechiae, hemarthrosis, anemia, poor wound healing, perifollicular and subperiosteal hemorrhages, corkscrew hair, decreased immune respon – due to collagen synth defect (less osteoid seam because cannot make collagen)

168
Q

Vit A – fxn and def

A

Retinol; Dx of epithelial cells into specialized tissue (prevents squamous metaplasia); used to tx measles and APL; def: night blindness, xerosis cutis, keratomalacia, Bitot spots on conjunctiva, immunosuppression

169
Q

Vit A excess

A

Acute: NV, vertigo, blurred vision
Chronic: alopecia, dry skin, hepatic tox, enlargement arthralgias, pseudotumor cerebri
Teratogen: cleft palate, cardiac abnormalities

170
Q

W-K syndrome

A

Low B1; Confusion, opthalmoplegia, ataxia + confabulation, personality change, memory loss – damage to medial dorsal nuc thalamus and mammillary bodies

171
Q

Dry beriberi

A

Low B1; Polyneuritis symmetrical muscle wasting

172
Q

Wet beriberi

A

Low B1; high-output cardiac failure (dilated cardiomyopathy), edema

173
Q

Hartnup disease

A

AR, deficiency of neutral amino acid transporters in PCT and enterocytes – e.g. tryptophan –> neutral aminoaciduria and less absorption –> less tryptophan for conversion to niacin –> pellagra-like; tx: high-protein diet and nicotinic acid

174
Q

Vit B3 excess

A

Facial flushing (induced by prostaglandins – can be reduced by taking aspirin), hyperglycemia, hyperuricemia

175
Q

Vit B9 def labs

A

Increased homocysteine, normal MMA

176
Q

Vit B12 def labs

A

Increased homocysteine, increased MMA and 2o folate def

177
Q

Vit C excess

A

NVD, fatigue, calcium oxalate stones, increase risk of iron tox in those susceptible

178
Q

Vit D – fxn and def

A

Calcitriol; increases absorption of Ca and phos – increases bone mineralization at low lvls but increases bone resorption at higher lvls; rickets in kids (genu varum), osteomalacia in adults (bone pain, muscle weakness)

179
Q

Vit D excess

A

Hypercalcemia, hypercalciuria, loss of appetite, stupor – seen in granulomatous disease (e.g. sarcoidosis) –> increased activation of vit D by epithelioid macs

180
Q

Vit E – fxn and def

A

tocopherol/tocotrienol; antoxidant – protects RBCs and membranes from free radicals; def: hemolytic anemia, acanthocytosis, muscle weakness, posterior column and spinocerebellar tract demyelination

181
Q

Vit K – fxn and def

A

phytomenadione, phylloquinone, phytonadione; fxn: activated by epoxide reductase –> reduced form cofactor for gamm carboxylation of glutamic acid on factors 2, 7, 9, 10 prot C/S; synth by intestinal flora (may be low in newborns/after abx–>hemorrhage)

182
Q

Zinc – fxn and def

A

Zinc fingers (transcription factor motif); def: delayed wound healing, hypogonadism, decreased adult hair, dysgeusia (sense of taste), anosmia, acrodermatitis enteropathica

183
Q

Kwashiorkor

A

Low protein diet –> edema (low oncotic pressure from less liver apoproteins), anemia, fatty liver, skin lesions

184
Q

Marasmus

A

Calorie deficient –> muscle wasting

185
Q

Fomepizole MOA and use

A

Inhibits alcohol DH; antidote for methanol or ethylene glycol poisoning

186
Q

Disulfram MOA and use

A

Inhibits ALDH; used in alcoholism

187
Q

Alcohol dehydrogenase – first or zero order kinetics?

A

Zero – same amount eliminated independent of conc.

188
Q

Alcohol’s effect on NADH and consequences

A

Increases NADH/NAD:

  1. pyruvate–>lactate (lactic acidosis)
  2. Oxaloacetate–>malate (prevents gluconeogenesis –> fasting hypoglycemia)
  3. Dihydroxyacetone phosphate –> g3p (combines with fatty acids to make trigs –> hepatosteatosis)
  4. Disfavors TCA production of NADH –> increased use of acetyl-CoA for ketogenesis and lipogenesis (ketoacidosis and hepatosteatosis)
189
Q

Mitochondrial metabolism

A

Fatty acid oxidation, acetyl CoA prodxn, TCA cycle, oxidative phosphorylation, ketogenesis

190
Q

Cytoplasmic metaobolism

A

Glycolysis, HMP shunt, synthesis of steroids, proteins, FAs, cholesterol, and nucleotides

191
Q

Mitochondrial AND cytoplasmic metabolism

A

Heme synth, urea cycle, gluconeogenesis

192
Q

NAD is used in _____ Processes

A

Catabolic to make NADH

193
Q

NADPH is used in ______ processes

A

Anabolic as a supply of reducing equivalents (product of HMP shunt)

194
Q

NADPH processes (4)

A
  1. anabolic processes
  2. respiratory burst
  3. cyt p450 system
  4. glutahione reductase
195
Q 
Hexokinase vs. glucokinase:
Location
Km
Vmax
Insulin induction
Feedback inhibition by G6P
A

Hexokinase:
Most tissues except liver and pancreatic beta cells
Lower Km(higher affinity) –> at lower conc, sequestered into tissue
LowerVmax (less capacity)
Feedback inhibited by G6P (1 rxn in glycolysis)

Glucokinase:
Liver and beta cells of pancreas
Higher Km (lower affinity) --> at higher conc taken into liver for rxns
Higher Vmax (more capacity)
Induced by insulin
196
Q

When is pyruvate DH active and purpose?

A

Fed state (increased NAD/NADH ratio, increased ADP, increased Ca), link glycolysis and TCA

197
Q

Pyruvate DH cofactors

A

(B1235, Lipoic acid) Thiamine, lipoic acid, CoA, FAD, NAD (same as akg DH)

198
Q

Arsenic poisoning MOA and sx

A

Inhibits kipoic acid, sx: vomitting, rice water tools, garlic breath, QT prolongation

199
Q

PDH Complex def

A

X linked, buildup of pyruvate shunted to lactate (LDH) –> neuro defects, lactic acidosis, increased serum alanine in infancy; tx: increase intake ketogenic nutrients (high fat, high lysine/leucine)

200
Q

High LDH activity cells

A

RBC, WBC, kidney medulla, lens, testes, cornea

201
Q

Fates of pyruvate

A
  1. Via ALT to alanine to liver
  2. Via pyruvate carboxylase to oxaloacetate for gluconeogen or TCA
  3. Via pyruvate DH for TCA
  4. Via LDH to lactate (end anaerobic glycolysis)
202
Q

TCA/Krebs mnemonic

A

Citrate Is Kreb’s Starting Substrate For Making Oxaloacetate

203
Q

ETC Inhibitors

A

1: RotenONE
3: AnTHREE(ti)mycin A
4: CO/CN
RAC

204
Q

ATP synthase inhibitor

A

Oligomycin

205
Q

Uncoupling agents

A

2,4 Dinitrophenol, aspirin, thermogenin in brown fat

206
Q

Odd or even chain FA can enter gluconeogenesis

A

Odd

207
Q

Can cause hemolytic anemia in G6PD deficiency

A

Fava beans, sulfonamides, primaquine, anti tuberculosis drugs, infxn

208
Q

Genetics of G6PD def

A

African american prevalence, XLr

209
Q

Cell presentation in G6PD def

A

Heinz bodies (precipitated hemoglobin) and bite cells (phagocytosis of Heinz bodies)

210
Q

Essential fructosuria – enzyme, genetics, sx

A

Defect in fructokinase, Ar, fructose in blood/urine (assymptomatic)

211
Q

Fructose intolerance – enzyme, genetics, sx

A

Aldolase B, Ar, F1P accumulation –> less phosphate –> inhibits glycogenolysis and gluconeogenesis; sx after consuming fruit/juice/honey, reducing sugar in urine; sx: hypoglycemia, jaundice, cirrhosis, vomitting – tx by reducing fructose and sucrose in diet

212
Q

Galactokinase def – enzyme, accumulation, genetics, sx

A

Galactokinase def (Gal–>G1P), accumulate galicitol, Ar; sx: galactose in blood and urine, infantile cataracts (failure to track objects/develop social smile) – less severe than classic galactosemia

213
Q

Classic galactosemia – enzyme, genetics, sx, tx

A

Galactose-1-phosphate uridyltransferase def (Gal1P–>Glu1P); Ar; sx upon feeding: failure to thrive, jaundice, hepatomegaly, infantile cataracts, intellectual disability, E coli sepsis predisposition; tx: exclude galactose and lactose

214
Q

Tissues that trap glucose via aldose reductase

A

Lens, retina, kidneys, schwann cells (think diabetic cataracts, retinopathy, nephropathy, peripheral neuropathy)

215
Q

Lab findings in lactase def

A

Decrease stool pH, increase breath H content; normal mucosa if heriditary

216
Q

Essential amino acids

A

Glucogenic: methionine, histidine, valine
Glucogenic/ketogenic: isoleucine, pheylalanine, threonine, tryptophan
Ketogenic: leucine, lysine

217
Q

Acidic amino acids

A

Aspartic acid and glutamic acid (negative charge at body pH)

218
Q

Basic amino acids

A

Histidine, lysine, arginine (no charge at body pH)

219
Q

When are arg and his required?

A

Growth – in histones to bind negative DNA

220
Q

Rate limiting in urea cycle & reg

A

CPSI (upregulated by NAG)

221
Q

Rate limiting in glycolysis & reg

A

PFK1 (upregulated by AMP, insulin, F26BP, glucose)

222
Q

Rate limiting in HMP shunt & reg

A

G6PD (upregulated by NADP, downregulated by goal – NADPH)

223
Q

Rate limiting in TCA cycle & reg

A

Isocitrate DH (upregulated by ADP, downregulated by ATP/NADH – goal)

224
Q

Rate limiting in gluconeogenesis & reg

A

F16BPtase (upregulated by ATP, glucagon, citrate, pyruvate)

225
Q

Rate limiting in glycogenesis & reg

A

Glycogen synthase (up regulated by G6P, insulin, cortisol)

226
Q

Rate limiting in glycogeneolysis & reg

A

Glycogen phosphorylase (upregulated by epinephrine and glucagon)

227
Q

Rate limiting in de novo pyrimidine synth & reg

A

CPS II (upregulated by ATP, PRPP; down reg by UTP)

228
Q

Rate limiting in de novo purine synth & reg

A

PRPP Amidotransferase (down regulated by AMP, IMP, GMP)

229
Q

Rate limiting in fatty acid synth & reg

A

ACC (upregulated by insulin, citrate; down regulated by glucagon and palmitoyl CoA)

230
Q

Rate limiting in fatty acid ox and reg

A

Carnitine acyltransferase I (down reg by malonyl CoA)

231
Q

Rate limiting in ketogenesis

A

HMG-CoA synthase

232
Q

Rate limiting in cholesterol synth & reg

A

HMG CoA reductase (upregulated by insulin, thyroxine, down regulated by glucagone and cholesterol)

233
Q

Tx of hyperammonemia

A
  1. Limit protein in diet
  2. Lactulose (acidifies GI tract to trap NH4 to excrete)
  3. Antibiotics to decrease ammonigenic bacteria (rifaximin)
  4. Benzoate, phenylacetate, or phenylbutyrate – react to bind glycine/glutamine to renally excrete
234
Q

OTC def genetics, sx, labs

A

Xr, sx: first few days of life –> excess carbamoyl phosphate goes to pyrimidine synthesis to make orotic acid –> incrased orotic acid in blood/urine, low BUN, symptoms of hyperammonemia (tremor, somnolence, vomiting, cerebral edema), NO megaloblastic anemia (present in orotic aciduria – UMPS defect)

235
Q

PKU – gen, def, cause, sx, tx

A

Ar, low phenyalanine hydroxylase or BH4 (cofactor) –> cannot synth tyrosine; sx: intellecutal disabililty, growth retardation, seizures, fair skin (upstream of tyrosine–>DOPA–>melanin), eczema, musty body odorl txL less phenylalanine and more tyrosine, BH4 supplement

236
Q

MSUD – gen, def, accumulation, sx, tx

A

Ar, low branched chaiin a-ketoacid dehydrogenase (B1) that breaks down isoleucine, leucine, valine –> increased a-ketoacids in blood (esp. leucine); sx: vomiting, poor feeding, urine smells like syrup/burnt surgar –> severe CNS defects, intellectual disability, death; tx: restrict ILV and supplement B1

237
Q

Alkaptonuria – gen, def, accumulation, sx

A

Ar, Def of homogentisate oxidase (degrades tyrosine–> fumarate), accumulate homogentisic acid; sx: bluish CT, cartilage, sclerae, urine turns black on prolonged exposure to air, arthralgias

238
Q

Homocystinuria causes/tx; sx

A

All Ar
1. Cystathionine synthase def (tx by less methionine, more cysteine, B6, B12, folate)
2. Decreased affinity cystathione synth for B6 (tx increase B6 and cysteine in diet)
3. Methionine synthase def (tx increase methionine in diet)
Sx: osteoporosis, marfaoid, ocular changes (down and in), cardiovascular thrombosis/atherosclerosis –> stroke/MI, kyphosis, intellectual dis

239
Q

Cystinuria gen, defect, sx, tx

A

Ar, defet in PCT/intesting amino acid transporter –> no reabsorption of cystine, ornithine, lysine, arginine; sx: cystine stones, urinary cyanide nitroprusside to diagnose; tx: alkalinize urine (potassium citrate, acetazolamide) and chelating agents (penicillamine), hydration

240
Q

Type I glycogen storage disease – name, def, sx, tx

A

Von Gierke
Def: G6Ptase – impaired gluconeogenesis and glycogenolysis
Sx: severe fasting hypoglycemia, increased glycogen in liver, increased blood lactate, increased trigs, gout, hepatomegaly
Tx: oral glucose/cornstarch, avoid fructose/galactose

241
Q

Type II glycogen storage disease – name, def, sx

A

Pompe disease
Def: lysosomal acid 1,4 glucosidase w/ alpha 1,6 glucosidase activity (acid maltase – basically debranching enzyme in a lysosome)
Sx: CARDIOMEGALY, hypertrophic cardiomyopathy, hypotonia, exercise intolerance, early death

242
Q

Type III glycogen storage disease – name, def, sx

A

Cori disease
Def: debranching enzyme
Sx: mild von Gierke (fasting hypoglycemia, hepatomegaly, increased trigs and uric acid) because gluconeogenesis intact – accumulate limit dextrin-like structures in cytosol

243
Q

Type V glycogen storage disease – name, def, sx

A

McArdle Disease
Def: skeletal muscle glycogen phosphorylase –> cannot breakdown glycogen in muscle
Sx: Muscle cramps, myoglobinuria and hypoglycemia (red urine) w/ exercise, arrhythmia from electrolyte abnormalities, second wind from increased musclar blood flow

244
Q

Her’s disease

A

Hepatic mcardles – glycogen phosphorylase def –> hepatomegaly and fasting hypoglycemia

245
Q

Anderson disease

A

Lack of branching enzyme –> one long glycogen chain –> cirrhosis –> fatal

246
Q

Tay-Sachs – gen, def, accumulation, sx

A 
Gen: Ar
Def: Hexosaminidase A
Accum: GM2 Ganglioside
Sx: progressive neurodegen, developmental delay, cherry red spot on macula, lysocomes w/ onion skin, NO hepatosplenomegaly
"There'S SIX SMALL JEWS in a GANG"
247
Q

Fabry Disease – gen, def, accumulation, sx

A 
Gen: Xr
Def: alpha-galactosidase A
Accum: Ceramide trihexoside
Sx: episodic peripheral neuropathy, angiokeratomas, hypohidrosis, progressive renal failure and heart disease
"I FABRicated A-GALA-Xy in CERAMIcs"
248
Q

Metachromatic leukodystrophy – gen, def, accumulation, sx

A

Gen: Ar
Def: Arylsulfatase A
Accum: Cerebroside sulfate
Sx: central and peripheral demyelination with ataxia, dementia

SULF

249
Q

Krabbe Disease – gen, def, accumulation, sx

A

Gen: Ar
Def: Galactocerebrosidase
Accum: Galactocerebroside psychosine
Sx: Peripheral neuropathy, destructin of oligodendrocytes, developmental delay, optic atrophy, globoid cells

“This KRABBE, BRO, is OUT of this WORLD”

250
Q

Gaucher disease – gen, def, accumulation, sx

A

Gen: Ar
Def: Glucocerebrosidease
Accum: Glucocerebroside
Sx: Hepatosplenomegaly, pancytopenia, osteoporosis, avascular necrosis of femur, bone crises, Gaucher cells (lipid laden macs that look like crumpled tissue paper)

“CRYING oh my GAUCH, he was such a SWEET BRO”

251
Q

Niemann-Pick – gen, def, accumulation, sx

A

Gen: Ar
Def: Shyingomyelinase
Accum: Sphingomyelin
Sx: progressive neurodegeneration, hepatosplenomegaly, foam cells (lipid-laden macs), cherry spot on macula

“NO MAN PICKs his nose with BIG SPHINGER”

252
Q

Hurler syndrome – gen, def, accumulation, sx

A

Gen: Ar
Def: a-L-iduronidase
Accum: Heparan sulfate, dermatan sulfate
Sx: Developmental delay, gargoylism, airway obstruction, corneal clouding, hepatosplenomegaly

253
Q

Hunter syndrome – gen, def, accumulation, sx

A

Gen: Xr
Def: Iduronate sulfatase
Accum: Heparan sulfate, dermatan sulfate
Sx: Mild hurler+aggression, no clouding

“X marks the HUNTERs spot” – has to SEE to aim

254
Q

Pancreatic lipase fxn

A

Degrades dietary trigs in small int

255
Q

LPL fxn

A

Decrads trigs circulating in chylomicrons and VLDLs, on vascular endothelial surface

256
Q

Hepatic trig lipase

A

Degrades trigs remaining in IDL

257
Q

Hormone sensitive lipase

A

Degrades trigs stored in adipocytes

258
Q

LCAT fxn

A

Catalyzes esterification of plasma cholesterol (Makes HDL mature)

259
Q

CETP

A

Mediates transfer of cholesterol esters to other lipoprotein particles (From mature HDL)

260
Q

Apo E – fxn, on ____

A

Mediates remenant uptake, chylomicrons, remnants, VLDL, IDL, HDL

261
Q

Apo AI – fxn, on ____

A

Activates LCAT; chylomicrons and HDL

262
Q

Apo CII – fxn, on ____

A

LPL cofator, catalyzes cleavage; chylomicrons, VLDL, HDL

263
Q

Apo B48 – fxn, on ____

A

Mediates chylomicron secretion into lymphatics; chylomicrons and remnants

264
Q

Apo B100 – fxn, on ____

A

Binds LDL receptor; VLDL, IDL, LDL

265
Q

Which lipoproteins carry momst cholesterol and their fxns?

A

LDL – cholesterol to tissues

HDL – cholestreol from periphery to liver

266
Q

HDL is a repository for which apolipoproteins

A

C and E – for chylomicron and VLDL metabolism

267
Q

Abetalipoproteinemia – gen, def/absence, sx, tx

A

Ar, chylomicrons VLDL LDL absent and def in ApoB48 and B100; sx: severe fat malabsorption, steatorrhea, failure to thrive, retinitis pigmentosa, spinocerebellar degeneration 2o to vit E def, progressive ataxia, acnthocytosis; tx: restriction of LCFA and large doses of vit E

268
Q

Hyperchylomicronemia – gen, def/absence, blood level increases, sx

A

Ar; LPL or apoCII def; increased chylomicrons, TG, cholesterol; sx: pancreatitis, hepatosplenomegaly, eruptive/pruritic xanthomas and creamy layer in supernatant

269
Q

Familial hypercholesterolemia – gen, def/absence, blood level increases, sx

A

AD; absent/defective LDL receptors;IIa –> increased LDL, cholesterol, IIb–> increased LDL, chol, VLDL; sx: heterozygotes have chol around 300, homozygotes have chol >700 –> accelerated atherosclerosis (MI before 20), tendon xanthomas, corneal arcus

270
Q

Dysbetalipoproteinemia – gen, def/absence, blood level increases, sx

A

Ar; defective apoE, increased chylomicrons and VLDL; sx: premature atherosclerosis, tuberoeruptive xanthomas, xanthoma striatum palmare

271
Q

Hypertriglyceridemia – gen, def/absence, blood level increases, sx

A

AD; hepatic overprodxn of VLDL; increased VLDL and trigs; hypertrig over 1000 –> acute pancreatitis

STEP (15 decks)

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