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First Aid Diseases > Biochem > Flashcards

Biochem Flashcards

1
Q

Fabry’s dz =

- sx?

A

XR; Lysosomal storage dz
No galactosidase A -> incr’d ceramide trihexoside
- periph neuropathy, angiokeratomas (skin problems), CV/renal dz

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2
Q

Gaucher’s dz =

- sx?

A

AR; most common lysosomal storage dz
No glucocerebrosidase -> incr’d glucocerebroside
- HSM!!!, aseptic necrosis of femur, bone crisis, Gaucher’s cells (Mphage like tissue paper) [NO cherry red spot on macula!]

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3
Q

Niemann-Pick dz =

- sx?

A

AR; Lysosomal storage dz
No sphingomyelinase -> incr’s sphingomyelin
- progressive neurodegen, HSM!!!, CHERRY-RED SPOT on macula, foam cells, retard

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4
Q

Tay-Sachs dz=

- sx?

A

AR; Lysosomal storage dz
No hexosaminidase A -> incr’d GM2 ganglioside
- progressive neurodegen, develop delay, CHERRY-RED SPOT on macula, lysosomes w/ onion skin, NO HSM; blindness, m. wkns; abnl startle reflex w/ sound stimuli; big head from accum in brain

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5
Q

Krabbe’s dz =

- sx?

A

AR; Lysosomal storage dz
No galactocerebrosidase -> incr’d galactocerebroside
- Periph neuropathy (no central!, develop delay, optic atrophy (blind), globoid cells

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6
Q

Metachromatic leukodystrophy =

- sx?

A

AR; Lysosomal storage dz
No arylsulfatase A -> incr’d cerebroside sulfate
- Central/periph demyelination w/ ataxia, dementia

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7
Q

Hurler’s synd (Scheie’s is milder form) =

- sx?

A

AR; Lysosomal storage dz
No a-L-iduronidase -> incr’d heparan sulfate and dermatan sulfate
- Develop delay, retard, gargoylism, airways obstruc (short neck), corneal clouding, HSM, CAD

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8
Q

Hunter’s synd =

- sx?

A

XR; Lysosomal storage dz
No iduronate sulfatase -> incr’d hepatan sulfate and dermatan sulfate
Mild Hurler’s + aggressive behav, NO corneal clouding, retard

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9
Q

Carnitine defic =

- sx?

A

Can’t transport LCFAs into mito -> toxic accum

Wkns, hypotonia, hypoketotic hypoglc

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10
Q

a-amantin

  • found in
  • does what
A

death cap mushrooms (Amanita phalloides)

-> inhib’s RNAPII, causes severe hepatotox if eaten

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11
Q

Rifampin

  • inhib’s?
  • affect on CYP?
  • SE?
A

Prok RNAP (only 1 in prok’s)
Rev’s up P450
Red secretions

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12
Q

How do euk’s end trxn?

A

1) Rho-factor is RNA-dep ATPase to kick off RNAP

2) GC-rich region followed by U-rich region -> stem-loop/hairpin, kicks off RNAP

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13
Q

tRNA

  • what carries the AA?
  • what NZ puts AA on tRNA?
A
  • CCA on 3’ end

- aminoacyl-tRNA synthetase; uses ATP (there’s 1 NZ per AA)

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14
Q

Tetracyclines

- inhib what?

A

Bind 30S ribo subunit of prok’s -> “aminoacyl-tRNA can’t attach” and trsn can’t occur

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15
Q

Euk ribo struc?

- what helps it assemble?

A

40S + 60S = 80S

- GTP hydrolysis -> initiation factors put it together w/ Met tRNA

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16
Q

tRNA uses ATP vs. GTP for?

A

ATP for act’n (charging) meaning putting AA on tRNA

GTP for gripping and going places (translocation) meaning connected to ribo and connecting new AA to growing AA chain

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17
Q

Ribozyme =

A

23S of 50S of prok ribo; catalyzes peptide bond formation using GTP

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18
Q

What do euk’s/prok’s need to translocate growing AA chain on ribosome?

A

Euk’s - EF2

Prok’s - EF G

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19
Q

Aminoglycosides

- inhib?

A

Bind 30S prok ribo subunit and inhib formation of initiation complex -> “misreading of mRNA”

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20
Q

Chloramphenicol

  • inhib?
  • works like?
A

Binds 50S ribo subunit and inhib’s peptidyl transferase (aka ribozyme, 23S -> can’t move growing AA chain from P to A site)
- Streptogramins

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21
Q

Macrolides (erythromycin, azithromycin, clarithromycin)

- Inhib?

A

Bind 23S ribozyme of 50S ribo subunit and prevent release of uncharged tRNA after it has given it’s AA

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22
Q

Linezolid

- inhib?

A

Works at 23S RNA in 50S subunit to prevent uncharged tRNA from leaving

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23
Q

Clindamycin

- inhib?

A

Works at 50S ribo subunit to block translocation

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24
Q

Which drugs work at 30S and which at 50S?

A

Buy AT 30, CCELL at 50:
AT (30S) = aminoglycosides, tetracyclines
CCELL (50S) = Chloramphenicol, Clindamycin, Erythromycin (and other macrolides), Lincomycin, Linezolid)…also streptogramin

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25
Q

Kwashiorkor =

  • sx?
  • clinical pic?
A

no pr

  • MEAL: malnut’n, edema, anemia, liver (fatty change from decr’d apolipopr syn so can’t get fat out), skin lesions too
  • Small child w/ swollen belly
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26
Q

Marasmus =

- sx?

A
  • complete calorie depravation

- m. wasting (Marasmus -> M. wasting), variable edema

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27
Q

Where does FA ox’n occur? What is this called?
Where does FA syn occur?
Where does steroid syn occur?
Where does choles syn occur?

A
  • mito, b-ox’n
  • cytopl
  • SER (vs. RER for pr)
  • cytopl
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28
Q

What metab’n occurs in both the mito and cytopl?

A

HUGs take 2:

Heme syn, Urea cycle, Gluconeogenesis

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29
Q

What NZ needs ATP? Needs biotin?

A

Kinase needs ATP to put phos on substrate

Carboxylase needs biotin to transfer CO2

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30
Q

Rate determining NZ of Glycolysis?

A

PFK-1
Stim’d by: AMP, F2,6BP
Inhib’d by: ATP, citrate

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31
Q

Rate determining NZ of Gluconeogenesis?

A

F1,6BPase
Stim’d by: ATP
Inhib’d by: AMP, F2,6BP

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32
Q

Rate determining NZ of TCA cycle??

A

Isocitrate DH
Stim’d by: ADP
Inhib’d by: ATP, NADH

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33
Q

Rate determining NZ of Glycogen syn?

A

Glycogen synthease
Stim’d by: glc, insulin
Inhib’d by: glucagon, EPI

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34
Q

Rate determining NZ of Glycogenolysis?

A

Glycogen phosphorylase
Stim’d by: AMP, EPI, glucagon
Inhib’d by: insulin, ATP

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35
Q

Rate determining NZ of HMP shunt?

A

G6P DH
Stim’d by: NADP+
Inhib’d by: NADPH

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36
Q

Rate determining NZ of de novo pyrimidine syn?

A

Carbamoyl phosphate synthetase II

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37
Q

Rate determining NZ of de novo purine syn?

A

Glutamine-PRPP amidotransferase

Inhib’d by: AMP, IMP, GMP

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38
Q

Rate determining NZ of Urea cycle?

A

Carbamoyl phosphate synthetase I

Stim’d by: N-acetylglutamate

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39
Q

Rate determining NZ of FA syn?

A

Acetyl-CoA carboxylase (ACC)
Stim’d by: insulin, citrate
Inhib’d by: glucagon, palmitoyl-CoA

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40
Q

Rate determining NZ of FA ox’n?

A

Carnitine acyltransferase I

Inhib’d by: malonyl-CoA (bc need more FAs)

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41
Q

Rate determining NZ of Ketogenesis?

A

HMG-CoA synthase

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42
Q

Rate determining NZ of Choles syn?

A

HMG-CoA reductase
Stim’d by: insulin, thyroxine
Inhib’d by: glucagon, choles

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43
Q 
CoNZ A carries?
SAM carries?
TPP carries?
Lipoamide carries?
THF carries?
Biotin carries?
A 
Acyl group
CH3 group
aldehydes
Acyl group
1-C units
CO2
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44
Q

4 uses of NADPH?

A

anabolic processes, resp burst, P450, glutathione reductase (antiox’t)

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45
Q

Where is GLUT 1-4? Which req’s insulin to work?

A

1 - in neurons and RBCs
2 - in liver and b-cells of panc
3 - all cells (NOT brain)
4 - SkM and adipose (INSULIN dep)

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46
Q

Nucleosome struc?

- Histones have lots of? Charge?

A

Histones H2A/B, H3 and H4, each 2x, w/ DNA wrapped 2x around them -> H1 btwn each nucleosome
- Lys and Arg -> (+) charge

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47
Q

Guanine has?
Thymine has?
Deamination of ? to ?
? only in RNA, ? only in DNA

A

Ketone
MeTHYl
Cytosine to Uracil
Uracil -> Thymidine

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48
Q

AAs for purine syn?
C’s from?
Make pyrimidines from?

A

Gly, Aspartate, Glutamine
Gly, THF, CO2
Carbamoyl phosphate + Aspartate

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49
Q

Diff btwn nucleosides and nucleotides?

A
  • Sides have base + ribose (sugar)

- Tides have base + ribose + phosphaTe (3’5’ phosphodiester bond)

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50
Q

Purines = ?

How to make them?

A

AMP + GMP (AG)

Ribose 5-P (sugar) + PRPP (phosphate) -> add base -> IMP -> AMP or GMP

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51
Q

Pyrimidines = ?

How to make them?

A

TMP/UMP and CTP
Temp base (orotic acid) from carbamoyl phosphate via CPS II (RL)
-> add (sugar + phosphate) = UMP
-> UDP -> CTP or…
dUMP via ribont reductase -> dTMP via thymidylate synthase (THF co-factor)

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52
Q

CPS I and II -> differences?

A

CPS I - in mito, urea cycle, N from ammonia (MAKES carb phos to enter into urea cycle)
CPS II - in cytosol, pyrimidine syn, N from glutamine (used carb phos to make orotic acid to make pyrimidines)

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53
Q

Ornithine transcarbamoylase defic =

A

No OTC in urea cycle -> accum of carbamoyl phospahte -> made into orotic acid via CPSII in cyto (pyr pthwy) -> excreted in urine; neuro problems from high ammonia levels

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54
Q

Hydroxyurea =

A

inhibs ribont reductase; no UDP to dUDP in pyrimidine syn pthwy
(used in SCA to make more HbF

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55
Q

6-MP =

A

blocks PPRP amidotransferase NZ in purine de novo syn pthwy

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56
Q

5-FU =

A

blocks thymidylate synthase; no dUMP to dTMP so low dTMP (pyrimidine syn pthwy)

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57
Q

MTX =

A

methotrexate

inhib’s euk dihydrofolate reductase, so decr’d THF and decr’d dTMP in pyrimidine syn pthwy

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58
Q

TMP =

A

trimethoprim

inhib’s bac dihydrofolate reductase, so decr’d THF and decr’d dTMP in pyrimidine syn pthwy

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59
Q

Can get orotic aciduria from what 2 defects?

How to tell them apart?

A

Defect in UMP synthase (pyrimidine syn pthwy) OR ornithine transcarbamylase defic (in urea cycle)
- No hyperNH3 in UMP syn defect; high NH3 in urea cycle defect

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60
Q

IMP can form?

A

GMP or AMP (purine salvage)
or can be degraded to inosine, to hypoxanthine, to xanthine (via xanthine oxidase) -> uric acid (via xanthine oxidase again)

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61
Q

ADA defic =

3 sx?

A

Can’t break down Adenosine -> Inosine in purine salvage pthwy -> high ATP and dATP -> inhib of ribont reductase -> no new DNA syn -> decr’d lymph’s -> SCID, AR
- recurrent infec’s, D, failure to thrive

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62
Q

Lesch-Nyhan synd =

sx?

A

XR - no HGPRT, so no purine salvage (no guanine to GMP and no hypoxanthine to IMP) -> lots of uric acid prod and de novo purine syn
- retardation, self-mutilation, aggression, hyperuricemia, gout, choreoathetosis

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63
Q

Guanylic acid =
Inosinic acid =
Adenylic acid =

A

GMP, IMP, AMP

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64
Q

Allopurinol =

If co-ad’d w/ 2 drugs -> higher tox’s of them, which 2 drugs?

A

Blocks xanthine oxidase, so no uric acid produced -> for gout
- 6-MP and azathioprine bc they too are metab’d by xanthine oxidase

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65
Q

Permanent cells types

A

Neurons, SkM, cardiac m., RBCs

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66
Q

Nissl bodies =

A

RER in neurons, makes NZs (ChAT which makes ACh) and peptide nt’s

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67
Q

Diff btwn RER and free ribo’s?
SER does?
Cells rich in RER/SER?

A

RER makes secretory pr’s and N-linked oligosaccharide onto pr’s
Free ribo’s make cytopl and organelle pr’s
SER makes steroids and does detox
RER: goblet cells (secrete mucus), pl cells (secrete Abs)
SER: liver (detox), ad cortex (steroid syn)

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68
Q

Golgi adds ? onto AAs?

A

Modifies N-oligosaccharide on Asparagine
Adds O-oligosaccharide on Ser and Thr
Adds M6P on pr’s (-> lysosomes)

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69
Q

I cell dz sx?

A

Coarse facial features, clouded corneas, restricted jt movement, high pl levels of lysosomal NZs

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70
Q

COPI vesicular trafficking pr does?

COPII does?

A

Backwards: Golgi->Golgi, Golgi->ER
Forwards: GolgiGolgi or ER to Golgi

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71
Q

Peroxisome =

A

catab of LCFAs and AAs

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72
Q

Proteasome =

A

barrel-shaped pr complex that degrades ubiquitin tagged pr’s

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73
Q

Microtubule struc?

Direc of dynein vs. kinesin?

A

Helical array of polymerized dimers of a/b-tubulin, ea dimer has 2 GTP bound
Dynein moves retrograde to microtubule
Kinesin moves anterograde to microtubule

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74
Q

Chediak-Higasi synd =

- 3 sx?

A

mutation in LYST (lysosomal trafficking) -> no microtubule-dep sorting of endosomal pr’s
- recurrent pyogenic infec’s, partial albinism, periph neuropathy

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75
Q

CIlia made of?
Kartagener’s synd is defect in?
- sx?

A

9+2 microtubules, w/ dynein arms btwn 9 microtubule doublet’s around outer edge -> bends cila

  • no dynein arm
  • > male infertil, decr’d female fertil, bronchiectasis, recurrent sinusitis; assoc’d w/ situs inversus
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76
Q 
These stains for intermediate filaments are for which cell type?
Vimentin
Desmin
Cytokeratin
GFAP
Neurofilaments
A 
ct
m.
epi cells
neuroGlia
neurons
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77
Q

Ouabain =

A

inhibits Na/K pump by binding K site

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78
Q 
Collagen:
Type I = 
2 = 
3 = 
4 =
A

1: strong type (bone, skin, tendon, late would repair) (defec in osteogenesis imperfecta -> bad matrix)
2: slippery type (carTWOlage, vitreous body)
3: bloody type (reticulin - skin, bl vessels, uterus, fetal tissue, granulation tissue) (defec in EDS w/ X-linking EC’ly)
4: bm or basement lamina (defec in Alport synd)

79
Q

Collage syn steps

A

1) Syn in RER (Gly-X-Y) of a-chains (preprocollagen)
2) ER: Hydroxylation of Pro and Lys (VitC)
3) ER: Glycosylation of Lys-OH in pro-a-collagen and form procollagen w/ H and di-S bonds -> 3x helix of procollagen
4) exocytosis of procollagen
5) EC: cleave di-S rich term region -> insol tropocollagen
6) X-link staggered tropocollagen (Lys to Lys-OH) (need Cu lysyl oxidase) -> collagen fibrils

80
Q

Prader-Willi synd =

sx?

A

chr 15, Paternal allele not expressed (loss from pat chr, and mom’s in inact’d)
- mental retardation, hyperphagia, obesity, hypogonadism, hypotonia

81
Q

AngelMan’s synd =

sx?

A

chr 15, Maternal allele is lost (not exp’d) and allele from dad is inact’d
- mental retardation, seizures, wide-based gait (ataxia), inappropriate laughter

82
Q

Hypophosphatemic rickets =

A

XD (all daughters of affected fathers affected)

incr’d phos wasting at PT -> rickets-like presentation

83
Q

Hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu synd) =
sx?

A

AD, d/o of bl vessels

- telangiectasia, recurrent epistaxis, skin discolorations, AV malformations

84
Q

Hereditary spherocytosis =
sx?
trtmt?

A

AD defect in spectrin or ankyrin

  • hemolytic anemia, incr’d MCHC
  • splenectomy
85
Q

NF type 1 =

sx?

A

AD, chr17

cafe-au-lait spots, neural tumors, Lisch nodules (iris hamartomas), sk d/o’s, optic gliomas

86
Q

NF type 2 =

sx?

A

AD, chr22 of NF2 gene

bilat acoustic schwannomas, kid cataracts

87
Q

Tuberous sclerosis =

sx?

A 
AD, defect in tuberin gene (tumor suppressor?)
facial lesions (adenoma sebaceum, like pimples), hypopig'd ash leaf spots on skin, cortical/retinal hamartomas, seizures, mental retard, renal cysts/angiomyolipomas, cardiac rhabdomyomas, incr'd incidence of astrocytomas
88
Q

von Hippel-Lindau dz =

sx?

A

AD, deletion of VHL (tumor suppressor) gene on chr3 -> act’n of HIF (TF) and act’n of angiogenic GFs
hemangioblastomas of retina/Ce/medulla, bilat RCC + other tumors (pheos)

89
Q

CF trtmt

A

N-acetylcysteine to loosen mucus plugs bc cleaves di-S bonds in mucus gp’s

90
Q

XR dz’s?

A 
Be Wise Fool's GOLD Heed's Silly HOpe
Bruton's agammaglobulinemia
Wiskott-Aldrich's synd
Fabry's d
G6PD defic
Ocular albinism
Lesch-Nyhan synd
DMD (and Becker's)
Hunter's Synd
Hemophilia A/B
Ornithine transcarbamoylase defic
91
Q

Fragile X synd =

sx?

A

X-linked CCG repeat affected FMR1 gene (Fragile mental retard.)
- lg testes, long face, lg jaw, lg everted ears, autism, retarded

92
Q

4 tri-nt repeat d/o’s?

A

Huntington’s CAG
Fragile X CCG
Friedreich’s ataxia GAA
Myotonic dystrophy CTG

93
Q

Preg quad screen for:

  • Down synd? U/S shows?
  • Edwards synd?
  • Patau’s synd?
A
  • decr’d aFP, incr’d bHCG, decr’d estriol, incr’d inhibin A; incr’d nuchal translucency (also in XO)
  • decr’d aFP, decr’d bHCG, decr’d estriol, nl inhibin A
  • decr’d free bHCG, decr’d PAPP-A, incr’d nuchal translucency
94
Q

Diff btwn Edwards and Patau’s synd?

A

Trisomy 18 vs. 13
Both: severe mental retard, rocker-bottem ft, VSD
Edwards: sm jaw, low-set ears, prominent occiput, clenched hands
Patau: sm head/eye, cleft lip/palate, ONE EYE, polydactyly, holoprosencephaly

95
Q

Robertsonian translocations occurs in which chr’s?

A

13, 14, 15, 21, 22

96
Q

Cri-du-chat synd =

sx?

A

deletion of short arm of chr5

- crying/mewing, sm head, retarded, epicanthal folds, VSD

97
Q

Williams synd =

sx?

A

microdeletion of long arm of chr7, inc’ing elastin gene
- Like Will Ferrel from Elf = elfin facies, stupid, verbal skills, friendly, hyperCa (so excited to see the sun when he can!) bc very sensitive to VitD

98
Q

22q11 deletions -> ?

2 assoc’d synds?

A

bad 3/4th pouches: cleft palate, abnl facies, thymic aplasia (T cell defic), cardiac defects, hypoCa 2* to no PT gl
- DiGeorge synd (thymus, PT and heart defects) and Velocardiofacial synd (palate, heart, face defects)

99
Q

3 ways to get Pyr DH defic?

Means that you can’t go into TCA cycle from Glycolysis -> lactic acidosis, cell swelling and apoptosis

A

1) Congenital X-linked gene for E1-a subunit of PDC -> neuro deficits, trtmt: eat ketogenic foods to make Acetyl-CoA from ketones (Lys and Leu are purely ketogenic)
Acq’d:
2) Alcoholics w/ thiamine defic (co-factor)
3) Arsenic inhib’s lipoic acid (co-factor) -> V, rice water stools and garlic breath

100
Q

ETC inhib’s at:

  • Complex I
  • Complex III
  • Complex IV
  • other one that causes Parkinson’s like sx?
A

I = Rotenone, barbiturates
III = Antimycin A
IV = CN, CO, H2S, N3 (azide)
MPP -> Parkinson’s like sx

101
Q 
ATP synthase (Complex V) inhib?
Uncoupling agents (3)?
A

Oligomycin (ETC stops working)

2,4DNP (wood preservative), ASA, thermogenin in brown fat (ETC continues working but ATP syn stops)

102
Q

What do RBCs use to protect themselves from FRs?

A

Reduced GSH is made by glutathione reductase from GSSG, using NADPH from HMG shunt (2GSH from 1 NADPH); GSH is an imp IC antiox’t

103
Q

G6P defic =

  • what precipitates an attack?
  • benefit of defect?
  • on histo see what 2 things in RBCs?
A

XR; No HMP shunt, so can’t make as much NADPH -> hemolytic anemia bc RBCs don’t have defense against ox’ing agents

  • usu infec -> hemolysis
  • incr’d malarial resistance
  • Heinz bodies (ox’d precipitated Hb) and Bite cells (after Mphage bite out Heinz bodies)
104
Q

What is the equivalent of catalase in RBCs?

A

Glutathione peroxoidase (H2O2 to water)

105
Q

Essential fructosuria =
sx?
how is fructose used?

A

AR; no fructokinase

  • benign, asymp, fruc in bl/urine (some diuresis)
  • hexokinase can make F6P from fruc -> used in pthwys
106
Q

Fructose intol =

  • what happens in cells?
  • sx?
  • trtmt?
A

AR, no aldolase B

  • F1P accum’s -> low phos and inhib of glycogenolysis and gluconeogenesis
  • hypoGlc, liver problems (jaundice, cirrhosis), V, decr’d Phos (all on Fruc)
  • don’t eat fructose or sucrose
107
Q

Galactokinase defic =

  • what happens in cells?
  • sx?
A

AR; no galactokinase

  • galactitol accum’s in cells
  • galac in bl/urine, baby cataracts (don’t track object, no social smile -> eye problems!)
108
Q

Classic galactosemia =

  • what happens in cells?
  • sx?
  • trtmt?
A

AR; no galactose-1-phosphate uridyltransferase

  • accum of toxic sub’s in cells (inc: galactitol)
  • failure to thrive, liver problems, baby cataracts, retard, hypoGlc
  • don’t eat galactose or lactose
109
Q

Pneumonic to remember fruc vs. galac d/o’s of metab?

A

FAB GUT:

Fruc is to aldolase B as galactose is to uridyl transferase

110
Q

Cells w/ only aldose reductase -> ?

A

Make sorbitol from glc but can’t make fruc from sorbital (no sorbitol DH NZ)
- Schwann cells, retina, kidneys

111
Q

Essential AAs =

- which is semi-essential?

A 
PVT TIM HALL
Phe, Val, Thr
Trp, Ile, Met
His, Arg, Leu, Lys
- Arg
112
Q 
Which AAs are:
Glucogenic?
Gluco/ketogenic?
Ketogenic?
Acidic?
Basic?
A
  • Met, Val, His
  • Phe, Ile, Thr, Trp (PITT)
  • Lys, Leu
  • Asp, Glu (- at body pH)
  • Arg < Lys, His (no charge) (+ at body pH) (Arg and Lys in histones bc bind - DNA)
113
Q

How is ammonium transported in the body (from m. to liver)?

- if you have too much NH4+, what happens?

A

M: from AAs it’s put onto a-KG to make glutamate -> transfered to Pyr (left over enters Cori cycle to make lactate) to make Alanine -> goes thr bl (Alanine cycle) -> liver: makes glutamate again -> urea cycle
- a-KG is depleted -> no TCA cycle and no E

114
Q

How to trt hyperNH4+?

A

Limit pr in diet
Benzoate or phenylbutyrate -> bind AA -> excreted
Lactulose (bac eat it and lower pH) to acidify GI -> trap NH4+ -> excreted

115
Q

Ornithine transcarbamoylase defic =

Sx?

A

XR; urea cycle d/o (NZ to make citrulline)

Excess carbamoyl phos -> orotic acid -> out in bl/urine; decr’d BUN, sx of hyperNH4+

116
Q

PKU (phenylketonuria) =

  • Sx?
  • Trtmt?
A

AR; no phenylalanine hydroxlase or no THB=BH4 cofactor -> can’t make Tyr from Phe -> incr’d Phe -> phenylketones (phenyl-acetate, lactate, pyr)

  • retard, sm head, sm growth, seizures, fair skin (no melanin), eczema, musty (mousy) body odor (bc incr’d aromatic molec’s)
  • decr’d Phe and incr’d Tyr intake
117
Q

Malignant PKU =

  • sx
  • trtmt
A

No DHB reductase -> no BH4 -> can’t metab Tyr nor Phe, also can’t make 5HT from Trp

  • decr’d syn of nt’s -> neuro problems even w/ good diet tx
  • not Phe, give L-DOPA and 5HT
118
Q

Alkaptonuria =

- sx?

A

AR; no homogentisic acid oxidase -> can’t brk down Tyr to Fumarate (incr’d homogentisic acid)
- benign, dark ct, brown sclera, urine turns blk when left out, arthralgias (toxic to cart)

119
Q

3 ways to get homocysteinuria and their trtmts:

  • which AA becomes essential?
  • sx?
  • looks like?
A

1) cystathionine synthase defic (Rx: less Met, more Cys and B12 in diet)
2) decr’d aff of above NZ for B6 co-factor (Rx: more B6 in diet)
3) no homocysteine methyltransferase NZ (Rx: req’s B12 and folate)
- Cysteine
- homocysteine in urine, retard, osteoporosis, tall, kyphosis, lens sublux (down/in), atherosclerosis (stroke, MI), damages vessel walls -> thormbosis
- Marfans habitus

120
Q

Cystinurina =

  • sx?
  • trtmt?
A

AR; no COLA transporter in kidney (cysteine, ornithine, lysine, arg) so no reab’n

  • cystine in urine -> hexag crystals and staghorn calculi (usu in kids)
  • acetazolamide to alkalinize urine -> no stones made
121
Q

Maple syrup urine dz =

- sx?

A

AR; no a-ketoacid DH (B1) -> no brkdwn of branched AAs (Ile, Leu, Val = I Love Vermont)
- Ile/Leu/Val in bl, CNS defects, retard, feeding problems, seizures

122
Q

Hartnup dz =

  • sx?
  • trtmt?
A

AR; no neutral AA transporter in kidney/GI

  • Trp in urine and decr’d ab’n in gut -> pellagra bc no B3 (niacin)
  • more pr in diet
123
Q

How do glucagon/EPI work to incr glc?

How does insulin incr glycogen?

A

AC -> cAMP -> PKA phos’s glycogen phosphorylase kinase -> active NZ can phos glycogen phosphorylase -> brks down glycogen

R TK dimerizes -> phos’s pr phosphatase to inact glycogen phosphorylase and to inact glycogen phorphorylase kinase -> less glycogenolysis

124
Q

Glycogen is degraded by?

A 
Glycogen phosphorylase (brks a1,4 links) (in SkM) (makes G1P)
Debranching NZ (brks a1,6 links) (makes glc)
- Some in lysosomes by a1,4-glucosidase (makes glc + Pi)
125
Q

4 glycogen storage dz’s?

A

Very Poor Carb Metab:
I: Von Gierke’s - no G6phosphatase
II: Pompe’s - no lysosomal a1,4-glucosidase
III: Cori’s - no debranching NZ
V: McArdle’s - no SkM glycogen phosphorylase

126
Q

VonGierke’s dz =

- sx?

A

AR; glycogen storage dz, no G6Pase
- can’t make glc -> hypoGlc, incr’d glycogen in liver/kidneys (big liver/kidneys, hepatosteatosis), incr’d bl lactate, hyperlipidemia, hyperuricemia
(only in liver and renal tub cells bc no NZ in muscle)

127
Q

Pompe’s dz =

  • sx?
  • in adult-type see?
A

AR; glycogen storage dz; no lysosomal a1,4-glucosidase (aka acid maltase)

  • Pompe’s trashes heart, liver, m.; cardiomegaly, retard, hypotonia, macroglossia
  • diaphragm wkns and resp failure
128
Q

Cori’s dz =

- sx?

A

AR; glycogen storage dz; no debranching NZ

- mild vonGierke’s, can brk down some glycogen, nl bl lactate levels, see dextrin-like struc’s in cyto of hep’s

129
Q

McArdle’s dz =

- sx?

A

AR; glycogen storage dz; no SkM glycogen phosphorylase

- incr’d glycogen in M’s that can’t be broken down -> cramping, myoglobinuria and lactic acidosis w/ exercise

130
Q

Why does body make ketone bodies?

A

When TCA cycle is stalled: starvation -> oxaloacetate gone for gluconeogenesis; w/ EtOH excess NADH shunts oxalo to malate
-> glc and FFA produce ketone bodies via HMG-CoA synthase -> brain and m. use them by making 2 AcCoA -> TCA cycle

131
Q 
Apolipopr's - on who? does what?
E:
A-I:
C-II:
B-48:
B-100:
A 
E: all except LDL, Extra remnant uptake
A-I: HDL, act's LCAT (esterify choles)
C-II: chylo/VLDL/HDL, LPL cofactor
B-48: chylo, chylo secretion into bl
B-100: VLDL/IDL/LDL, binds LDL R
132
Q

Abetalipoproteinemia =

  • sx?
  • trtmt?
A

AR; no MTP (microsomal TG transfer pr) gene -> no B-48 or B-100 -> decr’d chylo/VLDL syn/secretion

  • lipid in enterocytes of GI; failure to thrive, steatorrhea, acanthocytosis (burr cells), ataxia, night blindness
  • VitE helps
133
Q

Fomepizole =

A

inhib’s EtOH DH, antidote for methanol or ethylene glycol poisoning

134
Q

Disulfiram (Antabuse) =

A

inhib’s acetaldehyde DH -> high acetaldehyde, hangover sx (V, flushing)

135
Q

How does EtOH -> hypoglc?

- Since no TCA ->?

A

It’s metab’n -> incr’d NADH/NAD+ ratio in liver -> pyr to lactate and OAA to malate -> no gluconeog. -> stim’s FA synthesis -> hypoGlc and hepatic fatty change
- Acetyl-CoA is made into ketones; OAA to malate which is broken down to give more NADH

136
Q

What are the signs of hypoCa?

A

Tetany
m. irritability
Chvostek’s sign (Cheek) - tap CN VII on cheek -> facial spasm
Trousseau’s sign (Tighter cuff) - tighten BP cuff on arm -> arm spasm

137
Q

Alkaptonuria =

  • high levels of?
  • sx
A

no homogentisic oxidase to brk down homogentisate (from Tyr) to maleylacetoacetate (goes to TCA)

  • homogentisic acid
  • blk urine on ox’n, blk cart, degen arthritis
138
Q

2 mito DNA d/o’s?

A

Leber’s hereditary optic neuropathy, myoclonic epilepsy

139
Q

W/ EtOH abuse, what is:

  • NADH level
  • metab acid/alkalosis? due to what 2 ions?
  • why get gout?
  • why get high TGs?
  • why get fasting hypoGlc?
  • LFTs?
A
  • high (pyr -> lactate)
  • acidosis bc lactic acid and b-hydroxybutyric ketoacidosis from aceteoacetate
  • other acids complete w/ uric acid for renal excretion, so have high levels of it
  • high NADH so make NAD+ by DHAP -> Glycerol-3-P, which makes TG in liver
  • oxaloacetate depletion from gluconeogenesis and no substrates for TCA, so low glc
  • AST > ALT, high GGT
140
Q

MPTP drug, made by by-product of syn of meperidine, can cause?

A

Irreversible Parkinson’s dz; cytotoxic to neurons in nigrostriatal DA pthwy

141
Q

Sx of ASA overdose:

  • alk/acidosis?
  • temp?
  • GI?
A

First resp alk (stim’n of resp center) -> metab acidosis w/ incr’d anion gap

  • salicylates damage inner mito mem -> E released as heat -> hyperthermia
  • hemorrhagic gastritis, fulminant hepatitis
142
Q

Why is estrogen pro-coag?

A

Decr’s syn of ATIII and incr’s syn of factors I (fibrinogen), V and VIII

143
Q

Case-control study:

  • use what stat analysis, why?
  • what is dz is rare?
A

OR, bc we determine how many people are w/ and w/o dz, but if dz is rare then OR = RR

144
Q

What study do you use to determine:

  • dz incidence
  • dz prev
A
  • longitudinal cohort study

- X-sectional study

145
Q

SEM =

A

SD / SqRt[n]

146
Q

Type I vs. II error =

Power of a study =

A

false(+) vs. false (-)

Power = 1-b, where b is prob of Type II error [=probability of rejecting a Ho when it really is false]

147
Q

3 ways to incr the power of a study?

A

Incr sample size (power in #s), incr expected effect size, or incr precision of measurement

148
Q

How to calc CI?
- what should the CI not include for there to be a significant diff btwn 2 variables? what about if it’s the CI for OR or RR?

A

CI = range from mean +/- Z(SEM)
Where Z for 95% CI is 1.96, and for 99% CI is 2.58
- don’t include zero!
- don’t include one!

149
Q

What does the test measure:

  • t-test
  • ANOVA
  • X2 test
  • r2 coefficient
A
  • diff btwn means of 2 groups (binary)
  • diff btwn means of 3+ gps (cont vs. cat)
  • diff btwn 2+ categorical (%) outcomes (cat vs. cat)
  • coeff of correlation btwn 2 cont variables
150
Q

Disease prevention: 1, 2, 3* =

A

PDR:

- prevent, detect (early), and reduce disability

151
Q

Apgar score =

  • scores are based on?
  • good/bad scores are?
A

10 pt scale of newborn assessed at 1 and 5 mins

  • Appearance, Pulse, Grimace, Activity, Resp
  • > 7 good, 4-6 assist/stimulate, <4 resuscitate
152
Q

Low birth wt =

A

<2500g

153
Q

Develop milestones:

  • hold head up
  • sits, crawls, X-midline
  • stranger anxiety
  • walks
  • climbs stairs
  • kicks ball
  • parallel play
  • rides tricycle,
  • group play
  • stacks how many blocks at 1 and 2yrs
A
  • hold head up: birth-3mo (social smile)
  • sits, crawls, X-midline: 7-9mo
  • stranger anxiety: 12mo
  • walks: 12mo
  • climbs stairs: 12-24mo
  • kicks ball: 24-36mo
  • parallel play: 24-36mo (also: pee at three)
  • rides tricycle: 3yr (copies drawings, complete sentences)
  • group play: 4yr (dresses self, hops on 1 foot, simple drawings)
  • age x3 -> 3 blocks at 1yo, 6 at 2yo
154
Q

BMI

  • calc’d by?
  • underwt? nl? overwt? obese? morbidly obese?
A

wt in kg / (ht in m)2

- 30 obese, >40 morbid obesity

155
Q

EEG waveforms in sleep:

- awake, drowsy, N1, N2, N3, REM?

A

“BATS Drink Blood”
awake: Beta (high freq, low amp)
drowsy: Alpha
N1 light sleep: Theta (sm, rounded)
N2 grinding teeth: Sleep spindles (pushed together) and K complexes (high amp)
N3 deepest non-REM, no memory: Delta (low freq, high amp) (opp of awake!)
- super active so high amp: sleepwalk, night terrors, bedwetting
REM, no memory: Beta (like awake!)

156
Q

REM sleep has activity from where?

- nt during REM?

A

PPRF (paramedian pontine reticular formation/conjugate gaze center) -> extraocular eye movements
- ACh, NE reduces during REM

157
Q

What changes in sleep in depressed people?

A

Incr’d REM (comes on faster) and early-morning awakenings

158
Q

When it get darks out, what stim’s you that it’s time for bed?

A

Dark -> SCN of hypo -> NE release -> pineal gl releases melatonin -> sleep

159
Q

Biotin carries?

A

CO2

160
Q

Where is glucokinase?

- induced by?

A

In liver and b cells of panc, aka cells that reg glc

- insulin

161
Q

Baby w/ neuro sx, lactic acidosis, seizures, retarded, ataxia and spasticity =

A

Pyr DH defic

back up of Pyr->lactic acid, low E in cells bc no enter into TCA from glycolysis

162
Q

Where does gluconeogenesis occur?

Where can it not occur?

A

In the liver, NZs also in kidney and GI epi

Muscle bc no G6Pase

163
Q

Heinz bodies + bite cells = ?

A

G6PD defic

  • see ox’d Hgb in RBCs from oxidative stress that can’t be reduced bc no NADPH
  • see bite cells bc Mphage bit out Heinz bodies
164
Q

Phe is used to make?

- cofactors needed?

A

Tyr (->T4) -> Dopa (w/ Cu ->Melanin) -> DA -> NE -> EPI

  • BH4 to make Tyr and Dopa (hydroxylase NZ)
  • B6 to make DA
  • VitC to make NE
  • SAM to make EPI
165
Q

Tryptophan is used to make?

- cofactors needed?

A

w/ B6 to Niacin

w/ NH4 to 5HT -> melatonin

166
Q

Histidine is used to make?

- cofactor?

A

w/ B6 to Histamine

167
Q

Glycine is used to make?

- cofactor?

A

w/ B6 to porphyrin -> RL by ALA synthase to Heme

168
Q

Arg is used to make?

A

Creatine, Urea, NO

169
Q

Glutamate is used to make?

- cofactors?

A

w/ B6 to GABA

Glutathione too

170
Q

BH4 is used to make what neurotransmitters?

A

Tyr (from Phe), Dopa (from Tyr)

5HT from Trp

171
Q

B6 is used to make what neurotransmitters?

A 
DA (from Dopa)
Niacin (from Trp)
Histamine (from Histidine)
Porphyrin (from Glycine)
GABA (from Glutamate)
172
Q

Dihydroxyphenylalanine =

A

dopa

173
Q

Albinism due to congenital defect in what 2 possible things? Or lack of migration of?

A

1) no Tyrosinase, so don’t make melanin from Tyr
2) defective Tyr transporters so decr’d Tyr and thus decr’d melanin
3) lack of migration of neural crest cells

174
Q

FA syn occurs where?

- end product?

A

In cyto, get citrate out of mito via citrate shuttle

- AcCoA w/ B7(CO2)-> MalonylCoA -> Palmitate -> FA syn

175
Q

FA degradation occurs where?

- end product?

A

In mito, get FA into mito bc combining it w/ CoA to make Acyl-CoA, which bring into mito via carnitine shuttle
- AcylCoA -> b-ox’n to AcetylCoA which can become ketones or go into TCA cycle

176
Q

What are ketone bodies?
What are they used for?
RL NZ for their syn?

A

Made from FAs and AAs when TCA cycle is shut down (no OAA, no NAD+)

  • Brain uses ketones bc metab’s them to 2 molec’s of AcCoA -> enters TCA cycle and makes E
  • HMG-CoA synthase
177
Q

How many cal’s is 1 gm pr/carb/fat?

A

4 kcal for pr/carb

9 kcal for fat

178
Q

Mutation in xeroderma pigmentosum?
Mutation in HNPCC?
Mutation in ataxia-telangiectasia?

A

nt excision repair (endonuclease)
mismatch repair NZ
repair of double-stranded breaks

179
Q

Night blindness, dry skin, xerophthalmia (dry cornea), silver/gray plaques on conjunctiva, keratomalacia (clouding of cornea), sq metaplasia =
- in excess will see?

A

VitA defic
Dry eyes can ulcerate -> go blind
- skin changes, HA, incr’d ICP, pseudotumor cerebri, papilledema

180
Q

B1

  • active as?
  • used for what rxns?
A
  • TPP (thiamine pyrophosphate)

- Pyr DH and aKG DH rxns, also transketolase in HMP shunt (and in branched chain AA DH)

181
Q

Vasodil, edema and cardiomegaly in undernourished child, due to?

A 
Wet ber1ber1 (B1) - high output HF, edema
- Dry is polyneuritis, symm m. wasting
182
Q

Cheilosis and corneal vascularization =

A

B2 defic (riboflavin)

183
Q

No B6 -> defic in what other vitamin?

A

B3 (niacin) bc need B6 to make B3 from Tryptophan

184
Q

Dermatitis, enteritis, alopecia, ad insuff =

A

B5 (pantothenate) defic [CoA and FA syn]

185
Q

B6 =

  • active form?
  • used as cofactor for?
  • used to make?
A

Pyridoxine

  • pyridoxal phosphate
  • transamination (ALT/AST), decarboxylation rxns, glycogen phosphorylase
  • Cystathionine (Cysteine), Heme, Niacin, Hist, nt’s (5HT, EPI/NE, GABA)
186
Q

Convulsions, irritability, periph neuropathy and sideroblastic anemia =
- deficiency can be induced by (3)?

A 
B6 defic (no GABA -> convulsions, no heme -> sideroblastic anemia)
- EtOH, INH, OCPs
187
Q

B7 =

  • cofactor for?
  • deficiency can occur w/? (2)
A

Biotin

  • carboxylation NZs (Pyr carboxyl to OAA, AcCoA carboxyl to malonylCoA, propionyl-CoA carboxyl to methylmalonylCoA, aka step 1 of brkdwn of OCFAs)
  • Abx, avidin in egg whites
188
Q

B9 =

  • active form?
  • used as cofactor for?
A

Folic acid

  • THF
  • 1C transfer/methylation rxns
189
Q

B12 =

- cofactor for what 2 NZs?

A

Cobalamin
- homocysteine methyltransferase (make Met from Homocys) and methylmalonyl-CoA mutase (methylmalonylCoA to succinylCoA in OCFA brkdn to enter TCA)

190
Q

Can get buildup of homocysteine from defic’s in what 2 vitamins?

A

1) no B12, can’t make Met, have high cysteine and high methylmalonylCoA
2) no B6, can’t make Cysteine, have high Met and can’t make Hgb either so have sideroblastic anemia)

191
Q

Met + ATP =

  • regen of it is dep on?
  • need it to make?
A

SAM

  • B12 and folate
  • EPI from NE
192
Q

VitC is needed for what 3 things?

A

1) keeping Fe2+ in reduced state and THF in reduced (active) state
2) Hydroxylation of Pro and Lys in collagen syn
3) Conversion of DA -> NE

193
Q

Periph neuropathy, ataxia PLUS hemolytic anemia =

A

VitE defic bc it’s an antiox’t and protects RBCs and mem’s from FR damage, w/o it -> hemolysis, m. wkns, post column and spinoCe tract demyelination, LDL ox’n

194
Q

Rash around butt ->

A

Zn defic!

Also have: decr’d imm response, rash around mouth/eyes/nose/anus (acrodermatitis enteropathica)

First Aid Diseases (16 decks)

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