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Biochem Flashcards

1
Q

tetrahydrobiopterin

A

used as cofactor in synthesis of tyrosine (phe–>tyr), dopamine (Tyr–>dopa), serotonin (tryptophan–>serotonin), and nitric acid
via dihydrobiopterin reductase
(def an uncommon cause of PKU)

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2
Q

Cystic fibrosis

A

deletion of PHE at position 508 of CFTR gene

leading to defective protein-therefore less Cl transmembrane Cl channels

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3
Q

MSH2 MLH1

A

Code for MUT L and Mut S
Mistmatch repair gene mutations
account for >90% Lynch (HNPCC) genetic defects

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4
Q

sorbitol dehygrogenase

A

converts sorbital (made via glucose and aldose reductase) to fructose,
deficient in schwann cells, retinal and renal papilla leading to an accumulation in of sorbital
in lens the forward reaction has much less favorable kinetics and therefore can only keep up when small amounts of glucose are being converted to sorbitol
in states of hyperglycemia sorbital accumulates and cause deposits on lens and cataract formation

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5
Q

AAs on T arm of tRNA

A

thymine, cytosine, pseudouracil

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6
Q

sickle cell anemia gene defect

A

pt mutation in the 6th codon of the beta gene leading to valine (hydropobic) substitute for glutamic acid (hydrophilic)
-allowing for hydrophobic interactions and causing hb to aggregate in anaerobic conditions (more specifically bulging in beta chain fits in alpha chain hydrophobic region)

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7
Q

aldolase B def

A

fructose intolerance
metabolizes fructose 1 p to DHAP and glycerol–prevents glycogenolysis and gluconeogenesis
avoid fructose and sucrose (glucose+fructose)

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8
Q

mitochondrial metabolic pathways

A

beta oxidation of fatty acids, ketogenesis, TCA cycle, parts of urea cycle, pyruvate carboxylation

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9
Q

AA deriv of NO

A

arginine

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10
Q

AA deriv of urea

A

arginine and aspartate

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11
Q

AA deriv of Heme

A

glycine and succinyl CoA

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12
Q

AA deriv of creatinine

A

Glycine + arginine + SAM

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13
Q

AA deriv of GABA

A

glutamate

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14
Q

AA deriv of glutathione

A

Glutamate

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15
Q

AA deriv of pyrimidines

A

Glutamate + Aspartate

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16
Q

AA deriv of purines

A

Glutamate + Aspartate + Glycine

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17
Q

AA deriv of histamine

A

histidine

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18
Q

AA deriv of dopamine

A

Phe–>tyrosine–>Dopa–>dopamine

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19
Q

AA deriv of melatonin

A

Tryptophan–>serotonin–>melatonin

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20
Q

AA deriv of niacin

A

tryptophan

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21
Q

AA deriv of Melanin

A

Tyrosine

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22
Q

alpha galactosidase A def

A

Fabrys disease
accumulation of ceramide trihexoside
ancoparesthesias, angiokeratomas, heart/renal disease

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23
Q

DNA methylation at CpG islands

A

represses transcription

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24
Q

histone methylation

A

reversible represses DNA transcription

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25
Q

histone acetylation

A

relaxes DNA coiling and allows for transcription

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26
Q

GAG AAs

A

necessary for purine synthesis
Glutamine
Aspartate
Glycine

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27
Q

orotic acidura

A 
defect in pyrimidine production 
-hypochromic
megaloblastic anemia 
growth retardation 
excretion of high amounts of orotic acid in the urine
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28
Q

methotrexate/trimethoprime.pyrimethamine

A

all inhibit dihydrofolate reductase

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29
Q

adenosine deaminase deficiency

A

major cause of SCID
necessary for purine metabolism
leads to accumulation of adenosine which is toxic to lymphocytes
prevents DNA synthesis

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30
Q

Lesch Nyhan syndrome

A

defective absent HGPRT (hypoxanthine guanin phosphoribosyltransferase)
which converts gunaine to GMP and hypothanxine to IMP
excess uric acid production and de novo purine synthesis
-HGPRT
hyperuricemia
Gout
Pissed off (self mutilation, aggression)
Retardation
dysTonia
treatment: allopurinal or febuxostat (2nd line)

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31
Q

allopurinol/febuxostat

A

blocks conversion of hypoxanthine to xanthine and xanthine to uric acid

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32
Q

fluoroquinolones mech

A

inhibit topoisomerase II and IV

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33
Q

DNA pol III

A

5’-3’ synthesis, 3’-5’ exonuclease

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34
Q

DNA pol I

A

prok only

same as DNA pol III but can excise RNA primer

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35
Q

sickle cell dz mutation

A

missense substitution of glutamic acid with valine

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36
Q

duchenne muscular dystrophy mutation

A

frameshift-resulting in truncated nonfuncitonal dystrophin protein

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37
Q

DNA repair of bulky helix distorting lesions

A

nucleotide excision repair
defective in xeroderma pigmentosa
-cannot fix thymine dimer induced by UV light
-increase aging, skin cancer (squamous cell carcinoma and malignant melanoma)
in G1 phase

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38
Q

DNA repair of single NT mistakes

A

Base excision repair

  • glycosylase removes bad base creating an AP (apurinic/apyrimidic) site
  • endonuclease cleaves 5’ site
  • lyase cleaves 3’ site
  • DNA pol fills in, ligase seals
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39
Q

mismatch nucleotides

A 
-repair of newly synthesized strand 
MUT S detects mismatch and recruits MUT L-exonucelase removes mismatch and DNA pol fills
-defective in HNPCC 
in G2 phase 
-
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40
Q

DNA repair of double stranded breaks

A

nonhomologous end joining

  • 2 ends of DNA are brought together, may lose some DNA
  • defective in ataxia telangiectasia and Fanconi anemia
  • hypersensitive to ionizing radiation
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41
Q

ataxia telangiectasia

A

defective nonhomoloug DsDNA repair
-get cerebellar atrophy and repeated sino/pulmonary infections
-

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42
Q

amantia phalloides

A

mushroom cap
causes severe hepatotoxicity
-inhibits RNA pol II (makes mRNA)–[Pol I makes rRNA and III makes tRNA) -none have proofreading funciton

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43
Q

rifampin

A

inhibits RNA pol in prokaryotes

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44
Q

actinomycin D

A

inhibits RNA pol in euk and prok

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45
Q

p bodies

A

mRNA quality control, contain exonucleases, decapping enzymes and microRNAs -mRNA may be stored in P bodies and not used till much later

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46
Q

anti smith antibodies

A

highly specific for SLE

antibodies against snRNPs (part of splicesome that take introns out of mRNA)

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47
Q

thymine pseudourasil cytosine

A

T arm of tRNA

necessary sequence for binding with ribosome

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48
Q

D arm of tRNA

A

contains dihydrouracil necessary for tRNA recognition by correct amino-acyl tRNA synthetase

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49
Q

Li Fraumeni syndrome

A

have defect in p53, Rb tumor suppresors which normally regulate G1–>S phase progression

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50
Q

SER high in

A

liver, steroid hormone producing cells of adrenal cortex and gonads

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51
Q

mannose 6 phosphate signal

A

added by golgi-signals protein to lysosome

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52
Q

golgi modifications on proteins

A

modifies N-oligosaccharides on asparagine and adds O-oligosachhardises on serine and threonine

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53
Q

coarse facial features, clouded cornea, restricted joint movement,
- high lysosomal plasma levels

A

I cell disease
-defective N acetylglucosaminyl-1 phosphotransferase that leads to inability of golgi to add mannose signal to proteins
(usually fatal in childhood)

54
Q

COPI
COPII
Clarthrin

A

COPI: retrograde–golgi trans–cis–ER
COPII: anterograde-ER–Cis–trans
Clathrin: endosomes -receptor mediated endocytosis-LDL receptor activity

55
Q

dyenin

A

microtubule associated carrier protein

works in retrograde fashion from + to - mt end

56
Q

kinesin

A

microtubule associated carrier protein, works in anterograde fashion from - to + ends

57
Q 
int filaments staining 
Vimentin
Desmin 
cytokeratin 
GFAP
Neurofilaments
A 
vimentin-connective tissues
desmin-muscle
cytokeratin-epithelial tissues 
GFAP-neuroglia
neurofilments-neurons
58
Q

kartagener syndrome

A

primary ciliary dyskinesia

  • immotile cilia due to dyenin arm defect
  • infertile-no motile sperm and fallopian tube defect, bronchiectasis, recurrent sinusitis, situs inversus
59
Q

digoxin/digitoxin

A

directly inhibit Na/K ATPase which indirectly inhibts Na/Ca exchange, making the cytoplasm have a high Ca content, increasing contractility

60
Q

collagen type I

A

bone, skin, tendon, cornea

-defective in OI

61
Q

collagen type II

A

cartilage

62
Q

collagen type III

A

reticulin-blood vessels, uterus, fetal tissues, granulation tissue
-defect rare-vascular type of Ehler Danlos syndrome

63
Q

collagen type IV

A

basement membrane, lens, basal lamina

-defective in alport syndrome, auto-antibodies directed against it in good pasture syndrome

64
Q

best reflection of collagen synthesis

A

glycine-every 3rd residue

65
Q

which step of collagen synthesis requires vitamin C?

A

hydroxylation of proline/lysine residues

66
Q

menkes

A

defective collagen cross linking (lysine to hydroxy lysine) due to mt menkes protein leading to decreased copper absorption and therefore decreased activity of lysyl oxidase (needs copper)
-brittle, kinky hair, growth retardation, hypotonia

67
Q

aging wrinkles

A

decreased collagen and elas tin FORMATION

68
Q

FAVA beans

A

can precipitate hemolytic anemia in patients with glucose 6 dehydrogenase def. (used in HMP shunt) and therefore do not produce adequate NADPH necessary for RBS protection against ROS (used in reducing glutathione)

69
Q

amyl nitrate

A

converts hemoglobin into methhemoglobin whic has low affinity for oxygen but high affinity for CN and shunts this away form organelles (mitochondria) where it would induce damage

70
Q

pyruvate kinase deficiency

A

necessary for the conversion of phosphoenolpyruvate to pyruvate, producing ATP
-without it RBCs are hemolyzed bc of the insufficinect amount of ATP generated to maintain RBC cellular structure

71
Q

measles supplementation

A

vitamin A

72
Q

alkaptonuria

A

defective homogestisic acid oxidase-blocking tyrosine metabolism to fumarate, get accumulation of homogentistic acid which selectively accumulates in cartilage of ear, nose and turns black, also turns urine black

73
Q

excessive egg white ingestion

A

leads to biotin deficiencey (avindin found in egg whites binds biotin making it inactive)
-biotin is necessary for the conversion of pyruvate to oxaloacetate in gluconeogeneiss)

74
Q

burning feet syndrome

A

pantothenic acid deficiency (coenzyme A/vitamin B5)
-impt in the TCA cycle binds with oxaloacetate to form citrate
-also necessary for the production of Vitamin A, D, cholesterol, steroids, heme A, fatty acids, AAs, and proteins
causes feeet dysesthesias, paresthesias, edmea of lower extremities, chronic diarrhea, greasy stool

75
Q

thiamine participates as a cofactor in which glucose metabolic pathways

A
  1. part of pyruvate dehrogenase which converts pyruvate to acetyl coa
  2. with alpha ketoglutarate dehydrogenase in the TCA cycle
  3. HMP shunt with transketolase converting ribulose 5-p to G3P, F6P, and ribose5P
76
Q

high intracellular NADH in the setting of hypoglycemia

A

indicative of alcohol ingestion-alcohol serves as a form of energy and through its metabolism creates NADH, high NADH then shunts pyruvate from TCA to lactate

77
Q

cafe au lait spots, polyostotic fibrous dysplasia, percocious puberty, many endocrine abnormalities

A

McCune Albright Syndrome

  • due to defect in G protein signaling, example of mosaicism,
  • lethal if mutation occurs before fertilization
78
Q

prader willi

A

imprinting of maternal gene. chromosome 15, paternal gene then deleted, results in hyperphagia, small gonads, obesity, intellectual disability, hypotonia

79
Q

angelman

A

imprinting of paternal gene with subsequent maternal gene deleted/mutated, results in inappropriate laughter, seizures, ataxia, severe intellectual disability,

80
Q

autosomal dominant diseases

A 
ADPCKD-PKD1 gene chr 16
FAP-APC gene chr 5
Familial hypercholesterolemia
hereditary hemorrhagic telangiectasia 
Hereditary shpherocytosis: defect in spectrin or ankyrn 
Huntingtons disease CAG repeat chr 4 
Li fraumeni syndrome: abnml Tp53 gene--many malignancies at a very young age 
Marfan: defective fibrin gene FBN1 chr 13 
MEN associated with RET gene 
Myotonic dystrophy 
NF1: NF1 ch 17
NF2: NF2 ch 22
tuberous sclerosis:
VHL: deletion of VHL chr 3
81
Q

autosomal recessive diesases

A

CF, sickle cell anemia, ARpkd, glycogen storage disorderd, kartagener syndrome, mucopolysaccharidoses (except hunter), PKU, sphingolipidoses (except Fabrys) Thalassemia, Wilsons

82
Q

X linked recessive diseases

A 
Be Wise, Fool's GOLD Heeds SIlly Hope 
Bruton agammaglobulinemia
Wiskott Aldrich syndrome, 
Fabry, 
G6PD, 
Ocular albinism, 
Lesh Nyhan, 
Hunter SYndrome, 
Hemophilia A and B, 
Ornithine transcarbamylase A and B
83
Q

myotonic dystrophy type 1

A

My tonia, my testicles, my toupee, my ticker

CTG trinucleotide repeat of DMPK gene

84
Q

fragile X syndrome

A

CGG nucleotide repeat of FMR1 gene

-MR, macroorchidism, joint laxity, pes cavus, MVP, long face with large jaw

85
Q

Trinucleotide expansion diseases

A 
Huntinton (CAG)
myotonic dystrophy (CTG)
fragile X (CGG)
friedrich ataxia (GAA)
86
Q

decreased PAPPA
increased b HCG
increased nuchal translucency

A

downs syndrome findings in first trimester

87
Q

Decreased estriol
decreased alpha fetoprotein
increased b HCG
increased inhibin A

A

downs syndrome findigns in second trimester

88
Q

rocker bottom feet, micrognathia, low seat ears, clenching hands,

A

Edwards syndrome trisomy 18, most die after 1 year

89
Q

decreased PAPPA

decreased b HCG

A

edwards syndrome (trisomy 18)

90
Q

decrased alpha fetoprotein
decreased bHCG
decreased estriol
decreased PAPPA

A

edwards, trisomy 18

91
Q

cleft lip/palate, holoprosencephaly, polydacytly, congenital heart disease, rocker bottom feet, micropthamnia

A

Patau trisomy 13

92
Q

decreased b HCG
decreased PAPPA
increased fetal nuchal translucency

A

Patau syndrome trisomy 13

93
Q

cardiac abnormalities, epicanthal folds, microcephaly, intellectual disability, mewing sound

A

cri du chat, congenital deletion of short arm of chromosome 5

94
Q

elfin faces, intellectual disability, hypercalcemia (increased sensitivity to Vitamin D) well developed verbal skills, extreme friendliness to strangers, cardiovascular problems

A

williams syndrome

congenital microdeletion of long arm of chromosome 7

95
Q

CATCH22

A 
microdeletion at chromosome 22q11
C: cleft palate
A: abnormal facies 
T: thymic aplasia
C: cardiac defects 
H: hypocalcemia 2/2 parathyroid aplasia 
DiGeorge: thymic, parathyroid and cardiac defects 
Velocardiofacial syndrome: palate, facial, and cardiac defects
96
Q

dry scaly skin, night blindness, immunosuppresion, corneal degeneration, bitot spots on conjunctiva

A

Vitamin A deficiency

97
Q

vitamin A excess

A

acute: N/V, blurred vision
Chronic: alopecia, dry skin, pseudotumor cerebri, arthralgias
teratogenic: cleft palate, cardiac abnormalities,

98
Q

high output cardiac failure and LE edema

A

wet BerIBerI

vitamine B1 def

99
Q

polyneuritis, symmetrical muscle wasting

A

dry BerIBerI

vitamin B1 def

100
Q

increase in RBS transketolase activity following infusion of thiamine

A

diagnosis for B1 defiency (wenicke korsakoff/beriberi)

101
Q

cheiliosis and corneal vascularization

A

vitamin B2 def
riboflavin
necessary for FAD.FMN
B2=2ATP

102
Q

synthesis reactions requiring B6

A
  • cystathione
  • heme
  • niacin
  • histamine
  • serotonin
  • NE
  • epi
  • DOPA
  • GABA
103
Q

reactions which require Biotin

A

Vit B7
carboxylation reactions
-pyruvate carboxylase (pyruvate–>oxaloacetate)
-Propionyl carboxylase (propionyl CoA–>methylmalonyl CoA)
-AcetylCoA carboxylase (Acetyl Coa–>Malonyl CoA)

104
Q

causes of B12 deficiency

A

colbalamin
(have pool stores for years in the liver)
-insufficient intake (veganism)
-malabsorption (celiac sprue, enteritis, Diphyllobothrium latum)
-lack of intrinsic factor (pernicious anemia, gastric bypass)
-absence of terminal ileum (Crohn disease)

105
Q

function of Vitamin C (pathways)

A

hydroxylation of proline and lysine in collagen synthesis, dopamine Beta hydroxylase (converts dopamine to NE), facilitates absorption of iron by reducing to the Fe2+ ferric state

106
Q

corskcre hair, easy bruising, sollen gums, petechiae, hemarthrosis, anemia, poor wound healing

A

SCURVY

107
Q

ancillary treatment for methemoglobinemia

A

vitamin C

-reduces Fe3+ to Fe2+

108
Q

hemolytic anemia, acanthocytosis, posterior column and spinocerebellar tracy demyelination

A

Vitamin E deficiency

-like B12 without megaloblastic anemia or hypersegmented neutrophils or increased serum MMA

109
Q

dealyed wound healing, altered sense of tase/smell (dysgeusia/anosmia), acrodermatitis enteropathica

A

Zinc def

-may predispose to alcoholic cirrhosis

110
Q

Kwashiorkor

A 
MEAL
malnutrition
edema
anemia
liver (fatty)
111
Q

Marasmus

A

calorie malnutrition resulting in muscle wasting, edema loss of sub q fat

112
Q

ATP production from glycolysis with arsenic poisoning

A

ZERO ATP

113
Q

reactions involving Vitamin b6

A

transamination (an alpha keto acid joins with an AA to bceome an AA)
and in decarboxylation reactions

114
Q

tender loving care for nancy

A 
cofactors required by branched chain alpha dehydrgoenase, pruvate dehydrogenase and alpha keoglutarate dehydrognease 
Thiamine 
Lipoate 
CoA
FAD
NAD
115
Q

vomiting, rice water stools, garlic breath

A

arsenic poisoning–>inhibits lipoic acid (a key component of pyruvate dehydrogenase complex)

116
Q

high orotic acid in blood, urine, decreased BUN, tremor, slurred speech, somnolence, vomiting, cerebral edema, blurred vision

A

high ammonia secondary to ornithine transcarbamylase deficiency
-difference between this and orotic aciduria is no megaloblastic anemia is seen here

117
Q

hereditary dysfunction of PCT preventing absorption of COLA

A 
cystinuria
-cystine
-ornithine 
-lysine
-arginine
AT
urinary cyanide-nitroprusside test is diagnostic 
-causes hexagonal stone to precipitate 
tx: urinary alkalinization (potassium citrate, acetazolamide) and chletating agents (penicillamine)
118
Q

intellectual disability, marfanoid, osteoporosis, lens subluxation, kyphosis, thrombosis, atherosclerosis

A

homocytinuria

  • due to def in cystathionine synthase
    treatment: decreased methionin, increase cysteine, increase b12/folate in diet
119
Q

dark connective tissue, brown pigmented sclera, urine turns black on prolonged exposure to air

A

alkaptonuria
-due to def in homogentisate oxidase
can have debilitating arthralgias -homogentisic acid is toxic to cartilage

120
Q

lactulose give with…

A

binds ammonia, acidifies GI tract

  • given with rifaxamin to decrease colonic ammoniagenic bacteria
  • benzoate or phenylbutyrate decrease ammonia by binding and causing its excretion
121
Q

developmental delay, corneal clouding, gargoylism, airway obstruction

A

hunters
deficiency of alpha L iduronidase
get accumulation of heparan suflate dermatan sulfate

122
Q

developmental delay, gargoylism, aggressive behavior, airway obstruction

A

hurlers
-iduronate sulfatase deficiency
get buildup of dermatan and hapran sulfate

123
Q

central and peripheral ataxia with dementia, buildup of cerebroside sulfate

A

Metachromic leukodystrophy

-def of arylsulfatase A

124
Q

globoid cells, peripheral neruopathy,d evelopmental delya, optic atrophy

A

Krabbe disease

buildup of galactocerebroside/psychosine due to def of galactocerebrosidase

125
Q

cherry red spot, no HSM, progressive neurodegeneration, developmental delay, lysosomes with onion skin

A 
tay sachs 
def of hexosaminosidase A
126
Q

cherry red spot, Hsm, developmental regression, fomay histocytes,

A 
neiman picck
def of sphingomyelinase get accumulation of sphingomyelin
127
Q

pancytopenia, HSM, asecptic necrosis of femur, bone crisis, osteoporosis, lipid laden macrophages that look like crinkled tissue paper

A

gauchers disease

-def of glucocerebrosidase with accumulation of glucocerebroside

128
Q

acroparesthesia, angiokeratomas, cardiovascular/renal

A 
Fabrys 
def of alpha galactosidase A with accumulation of ceramide trihexose
129
Q

hypoketotic hypoglycemia with vomiting, lethargy, seizures, liver dysfunciton

A 
def of medium chain acyl COA dehydrogenase
-disorder of fatty acid oxidation and therefore breakdown to acetyl coa
130
Q

systemic primary carnitine def

A

cant transport long chain fatty acids into the mitochonria

-toxic accumulation causing weakness, hypotonia and hypoketotic hypoglycemia

Step 1 (13 decks)

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