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Brain Gainz > First Aid Biochem > Flashcards

First Aid Biochem Flashcards

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1
Q

What are the purines/pyrimadines

A

Pure As 2 Gold rings

C,U,T the py

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2
Q

Pyrimidine and Purine synthesis fuckups

Leflunomide, Methotrexate/Trimethoprim/pyrimethanmine, F-5U, 6-Mp, Ribavirin, Hydroxyurea

A

Pyrimidine fuck up

Leflunomide: messes up dihydroorate dehydrogenase (Carbomyl phosphate –> orotic acid)

MTX/TMP: messes up dihydrofolate reductase

F-5U: messes up thymidine synthesis

Purine fuck ups

6-Mp: messes with PRPP –> IMP

Ribavirn: fucks up IMP –> GMP

Hydroxyurea: fucks up both pyrimidine and purine

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3
Q

Adenosine Deaminase Deficiency (ADA)

whats the inheritance

A

major cause of SCID

you cant degrade adenosine into Inosine —> TOO MUCH ATP

leads to toxicity in Lymphocytes (no B or T cells)

AR

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4
Q

Lesch-Nyhan syndrome

whats the deficiency and Tx

A

Defect in Purine synthesis

Lack of HGPRT: you cant convert

Hypoxanthine –> IMP / Guanine –>GMP

results in Excess uric Acid

Tx- Allopurinol or Febuxostat

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5
Q

DNa replication functions

Single Stranded binding protiens / Primase / DNA polymerase III / Exonuclease / DNA polymerase I / DNA Topoisomerase / DNA ligase / DNA helicase

A

SSBPs: prevent single strands from reannealing (fusing)

Primase: Creates RNA primer for DNA polymerase to start replication on

DNA Polymerase III: Prokaryotes only. 5-3 synthesis

Exonuclease: proofreads

DNA Polymerase I: removes primer

DNA Topoisomerases: removes supercoils by nicking the dna

DNA ligase: seals the okazaki fragments by making phosphodiester bonds

DNA Helicase: Unwinds DNA

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6
Q

Which drugs block DNA topoisomerase (gyrase)

A

Flouroquinolones

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7
Q

Mismatch repair SS

deficiency leads to what dz?

presentation

A

fixes AG CT repairs

Lynch (HNPCC)

microstellate instability

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8
Q

Base excision repair SS

what causes the damage

A

Repairs damaged bases (toxic deamination-oxygen radicals) via glycoslyase

DNA polymerase-b fills the gap

Apurinic/Apyrimidinc site

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9
Q

Nucleotide excision Repair SS

defective repair leads to

A

Endonucleases cleave off damaged bases.

repairs bulky helix-distorting lesions

defective in Xeroderma pigmentosum (pyrimidine dimers) due to UV-B

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10
Q

Non homologous end joining Repair DS

whats the damage caused by?

A

Repair Double Strand breaks

ionizing radiation/ free radicals

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11
Q

What are the RNA polymerases in Eukaryotes?

A

RNA Polymerase I: rRNA

RNA polymerase II: mRNA (biggest)

RNA Polymerase III: tRNA (three)

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12
Q

What toxin is found in Death cap mushroom and how does it work?

A

inactivates RNA polymerase II (mRNA)

causes hepatotoxicity

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13
Q

How does rifampin work?

A

Inhibits RNA Polymerase in prokaryotes

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14
Q

How is RNA processed from hnRNA to mRNA

A

1) Capped at 5’ end w/ 7-methylgaunosine cap
2) Tailed via polyadenation Poly-A tail
3) Spliced (spliceosome) snRNPs

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15
Q

Function of Rough ER

A

Site of Synthesis of secretory proteins & N-linked oligosacharide

-Nissl Bodies in neurons

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16
Q

Funciton of Smooth ER

which cells have a ton?

A

Steroid synthesis and detox of drugs and poison

(liver hepatocytes and steroid hormones of adrenal cortex)

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17
Q

Kartageners syndrome

whats fucked up? whats the defect

presentation

A

a Primary Cilia fuck up.

immotile cilia due to dynein arm defect

Infertile, bronchiectasis, Situs inversus

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18
Q

What are the precursor proteins in Collagen

A

Glycine - Proline - Lysine

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19
Q

if you have scurvy what is the mess up

A

Deficient in Vit. C so you cant properly hydroxylize Proline and lysine

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20
Q

Whats wrong in Osteogenisis Imperfecta

why do you get blue sclera?

A

You have trouble forming the Triple helix of Procollagen

Choroidal veins

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21
Q

Whats wrong in Ehlers Danlos

A

You have problem with cleaving procollagen at N and C terminals

and Cross-linking

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22
Q

Whats up with Menkes Dz

presentation

A

X-linked

Impaired copper absorption

defective Menkes protein ATP7A

-kinky hair, growth retard, hypotonia

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23
Q

what are the wrinkles of aging due to?

A

Decreased collagen and elastin

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24
Q

Polymerase chain Reaction (PCR)

what are the steps

A

used to Amplify a desired fragment of DNA

diagnostic tool for HIV, herpes, encephalitis

1) Denature DNA with heat. along with 2 DNA primers beginning and end
2) Annealing: now that DNA is separated, it cools and the primers anneal to the strands
3) Elongation

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25
Q

Blotting - Southern Blot

A

DNA Sample

1) cleaved to smaller pieces then separted on gel electrophoresis then moved to a filter
2) Filter is exposed to radiolabed DNA probe that recognizes and anneals to the small pieces from 1
3) you end up with double stranded labeled pieve of DNA

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26
Q

Blotting - Northern Blot

A

Similar to DNA blot but you use RNA

useful for mRNA levels & Gene expression

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27
Q

Blotting - Western Blot

A

Protein is used.

Labeled Antibody is used to bind relevant protein

confirmatory test for HIV after ELISA

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28
Q

Fluorescence in Situ Hybridization (FISH)

A

fluorescent DNA or RNA probe binds to specifice gene site of interest on chromosoes

can tell- microdeltion, translocation, dubplication

detect location

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29
Q

Genetic terms

Pleiotropy / linkage disequillibrium / mosaicism / uniparental disomy

A

Pleiotropy: one gene contributes to multple phenotypic effects

Linkage diseq: tendance for certain alleles at 2 linked loci to occur together more or less than expected by chance

Mosaicisim: presence of genetically distinct cell lines in the same individual ie Mccune-albright

Uniparental disomy: offspring recieves 2 copies of chromosome from 1 parent and no copies from the other. Correct # of chromosomes (recessive disorder when only one parent is a carrier)

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30
Q

Whats Mccune Albright

A

mutation affecting the G- protien

Cafe au lait, fibrous dysplasia, precocious puberty, endocrine abnormalities

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31
Q

Downsyndrome (21)

presentation, what is a risk factor leading to it?

what are some comorbidities of Downs

First trimester Ultrasound

2nd trimester quad screen

A

Flat face, epicanthal folds, single palmar crease

  • incr. maternal age
  • Alzheimers, Hirschprung, Duodenal atresia, Congenital heart anomalies
  • incr. nuchal transluncency

-incr. B-hcg, inhibin A / decr. AFP, estriol

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32
Q

Edwards (18)

presentation screening?

A

Rocker-bottom feet, small jaw, lowset ears, clenched hand overlapping fingers.

-everything is decreased AFP, b-hCG, estriol, inhibin A

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33
Q

Patau syndrome (13)

A

Rockerbody feet, cleft lip/Palate, holoProsencephaly

Polydactyl

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34
Q

Cri-du-chat (chromosome deletion)

whats the deletion

A

Crying/mewing like a cat

Microdeletion of short arm of Chromosome 5

microencephaly/ VSD

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35
Q

Williams syndrome (chromosome deletion)

A

delation of chromosome 7

elvin facies, hypercalcemia

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36
Q

22q11 deletions

A

CATCH-22

Cleft palate, Abnormal face, Thymic dysplasia (T-cell deficiency) Cardiac defects, Hypocalcemia (no parathyroid)

fuck up of the 3rd and 4th branchial pouch

Digeorge- thymic, parathyroid, cardiac defects (no face)

Velocardiofacial syndrome- palate, facial, cardiac defects (no parathyroid probs)

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37
Q

Trinucleotide repeats

A

Try hunting for my fried egg

EX Gf First Aid Helped Ace My Test

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38
Q

Vit A

usues? Deficiency? Toxicity?

A

part of Visual pigiments, differentation of epithelial cells to special tissue: pancreatic cells, mucus secreting, prevents squamous metaplasia

-Wrinkles and Acne

Deficiency: Night blindness, dry scaly skin, Bitot spots (cornea of eye)

-teratogen, alopecia, dry skin

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39
Q

B1 Thiamine

deficiency?

A

Cofactor of dehydrogenase enzymes

*think ATP*

A-keto glutarate, transketolase, pyruvate dehydrogenase

-Beriberi / Wernicke korsakoff. seen in alcoholics

imparied glucose breakdown

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40
Q

B2 Riboflavin

deficiency

A

FAD

  • Cheilosis (inflam of lips and scaling of mouth)
  • Corneal vasculation
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41
Q

Vit B3 (Niacin)

wheres it derived from? deficiency? toxicity

A

NAD,

derived from Tryptophan,

-Pellagra: 3D’s- Diarrhea, Dementia, Dermatitis(c3/c4) necklace rash

-toxicity: flushing

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42
Q

which vitamins arent in breast milk

A

D & K

43
Q

Kwashiorkor

A

Malnutrition due to Protein deficiency

Lil kid with Fat belly (edema due to decr. oncotic pressur), Fat liver, and anemia

44
Q

Marasmus

A

Malnutrition of Protein & Calories

Super skinny muscle wasting

45
Q

Whats Fomepizole and how does it work

what is it an antidote for?

A

It inhibits Alcohol dehydrogenase

Methanol/ethylene glycol poisoning

46
Q

whats Disulfram and moa

A

Inibits Acetylaldehyde dehydrogenase

Acetylaldehyde buildup is the reason for hangover symptoms

47
Q

what does the buildup of NADH lead to?

A

build up of lactate (Lactic acidosis) and Malate (hypoglycemia)

Pyruvate —NADH–> Lactate

Oxaloacetate —NADH–> Malate

48
Q

whats the only source of energy for RBC

A

Glycolysis

49
Q

Pyruvate kinase deficiency

A

means you cant make pyruvate in glycolysis so you cant form ATP which means RBCs die via Hemolytic anemia

50
Q

What cofactors are needed for pyruvate dehydrogenase. whats the purpose of this enzyme

A

Pyruvate —-Dehydrogenase–> Acetyl CoA

TLC For Nancy

Thiamine, Lipoic acid, Co A, Favin (b2), NAD (b3)

51
Q

pyruvate dehydrogenase deficiency

how do you treat it?

A

cant turn Pyruvate into Acetyl Coa

So you get a build up of pyruvate that get turned into Lactate acid (

Lactic acidosis & incr. serum Alanine

Ketogenic nutrients Lysine/Leucine

52
Q

What does arsenic poisoning due?

A

fucks up Lipoic acid so no more pyruvate dehydrogenase

Garlic breath

53
Q

Pyruvate metabolism

what all does pyruvate turn into and its enzymes

A

Pyruvate

—-Alanine transaminase–>Alanine

—-Lactate dehydrogenase—>Lactate

_______

in mitochondira

—-Pyruvate dehydrogenase–>ACetyl Coa

—-Pyruvate carboxylase—>Oxaloacetate

54
Q

Main funciton of TCA cycle

A

generate fuel for ATP synthesis

55
Q

What is citrate used for?

A

shuttles Acetyl CoA out of mitochondria for Fatty acid synthesis

56
Q

Electron transport chain/Ox phos

function? how are they transported?

A

Take the 3NADH and 1FADH from TCA cyle and generate ATP

NADH transported via malate-aspartate shuttle/ Glycerol 3 phosphate shuttle

FADH complex II

57
Q

Electron Transport inhibitors

Moa?

A

inhibit electron transport flow (causing decr. in proton gradient)

blocks ATP synthesis

RotenONE fucks up complex ONE (NADH dehydrogenase)

An-3-mycin A (antiymycin) fucks up Complex 3 (Cytochrome Bc)

CO/CN fucks up 4 (Cytochrome C)

58
Q

whats the antidote to Cyanide poisoning?

A

Thiosulfate

59
Q

ATP synthase inhibitors

Uncoupling agents?

A

this directly inhibits mitochondrial ATP synthse

Oligomycin

__________________

decr proton gradient and incr O2 consumption Produces Heat

2,4 Dinitrophenol, thermogenin in brown fat

60
Q

Glucose Transporters

fuctions of GLUT 1-4 and locatoin

A

Glut 1: normal uptake at basal layer / many places

Glut 2: low affinity glucose uptake / hepatocytes, pancratic B cells,

Glut 3: brain neurons

Glut 4: insulin controlled/ Muscles myocytes,

61
Q

HMP (hexose-monophosphate) shunt

function? reactions involcved

A

provides source of NADPH from glucose-6-P

it also creates Ribose for Nucleotide synthesis

________

G6P —G6PD—> NADPH + Ribose

62
Q

function of NADPH

A

required for reductive reactions:

glutathione, fatty acid and cholesterol synthesis

63
Q

G6PD deficiency

what does it lead to?

what will you see on smear?

A

failure to produce NADPH

without NADPH you cant keep glutathione reduced.

without Glutathione you cant detoxify free radicals

___

Hemolytic anemia since RBCs cant handle oxidative stress

____

Heinz bodies (denatured Hb inside RBC)

Bite cells due to splenic macrophages removing Heinz bodies

64
Q

Essential fructosuria

whats the defect. what is it? what are symptoms

A

Fructokinase defect - you cant break down fructose

Benign since fructose isnt trapped in cells

symptoms: fructose appears in blood and urine

65
Q

Fructose intolerance

whats the deficiency? what cant you break down?

whats the huge fuck up? when do symptoms present?

A

Aldolase B -

you cant break down Fructose-1-P (it accumulates)

causes decrease in available phosphate

*** inhibits Glycogenolysis + Gluconeogenis***

after eating fruit, juice, or honey

66
Q

Galactokinase deficiency

what does it lead to?

A

cant turn Galactose into Galactose-1-P

galactosemia, infantile cataracts,

incr. Galactisol (accumulates in lens of eye)

failure to develop social smile

67
Q

Classic Galactosemia

what enzyme is deficient

A

Galactose-1-P uridyltransferase

cataracts (due to Galactisol), MR, E. coli spsis

phosphate deficiency

68
Q

Sorbitol metabolism

function? what happens if you get too much sorbitol buildup and where?

A

Alternative pathway of trapping glucose in the cell is by converting it to its alchol form (sorbitol)

Glucose —Aldose reductase–> Sorbitol

Sorbitol —Sorbitol dehydrog–>fructose

____

if you dont have sorbitol dehydrogenase then sorbitol will accumulate. its osmotically active which can cause damage. Schwann cells, retina, and kidney dont have it.

69
Q

what sugars is lactose made of?

A

Glucose and Galactose

70
Q

Lactase deficiency

where does lactase work? 2 ways to get it?

how do you test?

A

Lactose intolerance

functions on the brush border to digest lactose

1) age dependent decline of lactase 2) loss of brush border
- incr. hydrogen with lactose hydrogen breath test

71
Q

Urea cycle

function? where does the excess Nitrogen go?

whats a big main function

A

Amino Acid catabolism that results in formation of metabolites used in TCA cylce for ATP synthesis

-turned int Urea for pee

way to get rid of ammonia

72
Q

Hyperammmoniemia

what are the 2 deficiencies

A

N-acetylglutamate Synthase

Carbamoyl phosphate synthetase I deficiency

73
Q

Ornithine Transcarbamylase deficiency

findings

A

Urea cylce disorder

Body cant eliminate ammonia

Excess Carbamoyl phosphate —-> Orotic acid (pyrimidine synthesis)

Incr. Orotic acid/ decr. BUN/ hyperammonemia

74
Q

Ammonia transport

how is it transported from tissues to be excreted

A

glutamate and alanine

75
Q

Pyruvate transport (glucose-alanine cycle)

A
76
Q

Hartnup Disease

A

cant transport Tryptophan –> means you get a deficiency in Serotonin and Niacin

lack of niacin–> Pallagra smptoms

77
Q

What are the amino acid derivatives

A

Phylalanine:Tyrosine (thyroxine), DOPA(melanin), dopamine, NE, epi

Tryptophan: Niacin (NAD/NADP), Serotonin (melotonin)

Histidine: Histamine

Glycine: Protoporphyrin, Heme

Glutamate: GABA, Glutathione

Aspargine: Urea, Creatine, NO

78
Q

PKU

whats the deficiency? presentation? tx? what must they avoid

A

inability to breakdown Phenyalanine

decr. Phenylalanine hydroxylase/ tetrahydrobiopterin

incr. pheynlalanine levels (duh)–> excess phenylketones in urine
- MR, growth retard, siezure, fair skin, eczema, musty body odor

tx- You gotta remove phenylalanine from diet and Incr. Tyrosine to bypass the defect.

must avoid aspartame (artificial sweetener that contains phenylalanine)

79
Q

Maple syrup urine dz

whats decreased? presentation? tx?

A

Decreased degredation of branced amino acids

Isoleucine Leucine Valine

(I love vermont Maple syrup Branches1)

Decr. alpha keto acid dehydrogenase

  • CNS defects, urine smells like maple/burnt sugar
  • restriction of ILV from diet. Thiamine supplement
80
Q

Alkaptonuria

finding

A

congenital deficiency of homogentisate oxidase

Cant turn Tyrosine into Fumarate

-Bluish-black skin & sclera / arthritis

pee turns dark after exposure to air

81
Q

Homocystinuria

what causes it? presentaiton

A

Build up of homocystine

due to lack of b6 (pyridoxine) or b12(cobalamin)

marfans/vessel damage

82
Q

walk thru Glycogenolysis & glycogenesis

A

Glycogenolysis

Glucagon or Epi attaches to muscle or liver. Activates Adenylase Cyclase which incr. cAMP. this stimulates Protein Kinase A which stimulates Glycogenphosphorylase kinase –> Glycogen phosphorylase —> breaks down glycogen

Glycogenesis

Insulin binds to muscle and liver via tyrosine kinase

stimulates protein phosphorylase –> stimulates Glycogen synthase –> makes glycogen

83
Q

Glycogen storage dz

Very poor Carb metabolism

A

Type 1: Von Gierks dz

Type 2: Pompe dz

Type 3: Cori dz

Type 5: McArdle dz

84
Q

Von Gierke Dz

what enzyme is deficient? findings

A

Type 1 glycogen Storage dz

Glucose-6-phosphatase

Cant turn Glucose into G6P

  • severe fasting hypoglycemia, increased glycogen in liver
  • body relies on fat and protein metabolism so

Incr. triglycerides, blood lactate, and uric acid (gout)

85
Q

Pompe dz

whats special bout this one

A

Type 2 glycogen storage dz

Lysosomal

Pompe trashes the Pump (severe heart problems)

86
Q

Cori dz

deficiency

A

glycogen storage dz Type 3

debranching enzyme A-1,6 glucosidase

normal lactate levels

87
Q

McArdle dz

deficiency? what happens when they exercise?

A

type 5 glycogen storage dz

glycogen phosphorylase*** / ***muscle phosphorylase

Incr. glyocen in Muslce becase you cant break it down w/o glycogen phosphorylase

Muscle cramps, Myoglobinuria (red urine) with excercise / 2nd wind phenomenon

88
Q

Lysosomal storage dz’s

list em

A

Sphingolipidoses

Fabry, Gaucher, Niemann-Pick, Tay-Sachs, Krabbe, Metachromatic leukodystrophy

Mucopolysaccharidoses

Hurler, Hunter

89
Q

Fabry Dz

Deficient enzyme? and build up of what

A

lysosomal storage dz

Triad: Periph neuropathy, angiokeratomas, hypohidrosis (diminished sweating)

A-galactosidase A / Ceramide trihexoside

90
Q

Gaucher dz

deficient in? what builds up? findings

A

lysosomal storage dz

B-glucocerebrosidase / Glucocerebroside

cells look like crinkled tissue paper.

Hepatosplenomegaly, aseptic necrosis of femur

91
Q

Niemann-Pick dz

deficient? build up? findings

A

Lysosomal storage dz

Sphingomyelinase / Sphingomyelin

neurodegeneration/ cherry red macula / Hepatosplenamegaly

92
Q

Tay-sachs dz

deficient? build up? findings

A

lysosomal storage dz

Hexosaminidase A / GM2 ganglioside

Cherry red on macula, onion skin lysosomes, (no hepatosplenomegaly)

93
Q

Krabbe dz

deficient? build up? findings

A

lysosomal storage dz

B-galactocidase / Galactocidase + psychosin

Optic atrophy, destroys myelin sheath

94
Q

Metachromatic leukodystrophy

deficient? build up? findings

A

Lysosomal Storage do / demyelinating do

Arylsulfatase A / Sulfatides

destroys myelin, ataxia, dementia

95
Q

Hurler Syndrome

deficiency? build up? findings?

A

lysosomal storage dz - Gargoylism

A-L-iduronidase / heparan & dermatan sulfate

Gargoylism, corneal clouding

96
Q

Hunter Syndrome

deficiency? buildup? findings

A

lysosomal storage dz

Iduronate sulfatase / heparan & dermatan sulfate

aggresive behavior, no corneal clouding

97
Q

what is needed in fatty acid Synthesis

whats the end product?

A

Citrate

from the mitochondria “SYtrate”​

palmitate

98
Q

what is needed for Fatty acid degredation

what mechanism is used and where?

deficiency of transporter?

A

Carnitine

B-oxidation in the mitochondria

Carnitine deficiency- inherited defct in transport of LCFA into mitochondria

–>weakness, hypotonia, hypoketoic hypoglycemia

99
Q

what happens in alcoholism (excess NADH)

Prolonged starvation

A

excess NADH which shunts

pyruvate–>lactate

Oxaloacetate–>malate

________

oxaloacetate gets used up by gluconeogeneisis

both cause a build up of acetyl-CoA which shunts glucose and FFA to Ketone bodies

100
Q

What are the ketone bodies?

A

Acetone, Acetoacetate , B-hydroxybutyrate

Acetone gets breathed off

B-hydroxy –> Acetoacetate which gets converted to acetyl coa (used for TCA cylce to make ATP) in tissues

101
Q

Dietary fuel

kcal of protein, carb, fat, alcohol

A

1g of protein/carb: 4 kcal

1g of fat: 9 kcal

1g of alcohol: 7kcal

102
Q

what happens after a fed state?

A

Insuline stimulates storage of lipids, proteins, glycogen

via Glycogen synthase

103
Q

what happens in a fasting state (between meals)

A

Hepatic glycogenolysis

via glucagon & epinephrine stimulation

glycogen phosphorylase

104
Q

Cholesterol

function? rate limiting step?

A

used to maintain cell membrane,

synthesize bile acid, steroids and Vit D.

HMG-CoA reductase is rate limiting

Brain Gainz (30 decks)

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