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Biochem Flashcards

1
Q

fragile X symptoms

A

large ears, jaws, hyperorchid

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2
Q

drug induced lupus cause

A

acetylation

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3
Q

snRNP function

A

remove introns

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4
Q

Hemoglobin S&C mutations

A

missense

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5
Q

Mitochondrial inheritance diseases

A

MERFF, MELAS, lebers optic neuropathy(usually myopathy/CNS)

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6
Q

angelmans vs prader willi

A

maternal(inappropriate laugh, seizure, ataxia) vs paternal(hypogonad, obese)microdeletion chromosome 15

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7
Q

orotic aciduria

A

autoR, UMP sythase defect, causes megaloblastic anemia

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8
Q

retardation, gout, self-mutilation, agression

A

Lesch-nyhan-HGPRT(purine recovery) enzyme, autoR

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9
Q

excess ATP/dATP enzyme

A

adenosine deaminase-SCID, autoR

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10
Q

nucleotide excision repair disease

A

xeroderma pigmentosum

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11
Q

mismatch repair disease

A

HNPCC

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12
Q

non-homologous end joining disease

A

ataxia telangiectasia

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13
Q

RNA polymerase products in eukaryotes

A

I=rRNA, II=mRNA, III=tRNA

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14
Q

p53/Rb cell cycle action

A

prevent G1 to S phase progression

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15
Q

i-cell disease

A

failure to add M6P to lysosome proteins (course face, restricted joint& high lysosomal enzymes), autoR

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16
Q

microtubule drugs

A

vincristine/blastine, paclitaxel, mebendazole, colchicine

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17
Q

recurrent pyogenic infx, albino, peripheral neuropathy

A

chediak-higashi- LYST lysosomal trafficking gene-autoR

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18
Q

dynein arm mutation

A

kartageners-sterile, sinusitis, situs inversus, autoR

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19
Q

collegen types/disorders

A

I-bone(osteogenesis imperfecta), II-cartilage, III-reticulin (ehlers danlos), IV-BM(alport-nephritis/deaf, Xrecessive)

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20
Q

blotting types

A

southern-DNA, Northern-RNA, western-protein, SW-DNA binding proteins

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21
Q

common autosomal dominant disorders

A

achondroplasia(FGF3), ADPKD(PKD1-c16), FAP(APC-c5), IIA/IV cholesterol, Huntingtons, marfans, MEN, NF, tuberous sclerosis, VHL, spherocystosis(spectrin/ankyrin)

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22
Q

carcinoid finding

A

high seratonin/urine 5-indoleacetic acid(tricuspid regurge)

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23
Q

B1 functions&deficiency

A

thiamine-decarboxylation reaction cofactor, wenicke-korsacoff(confusion, opthalmoplegia, ataxia-mamillary bodies)/beri beri(wet=dilated CMY/edema, dry= muscle wasting+polyneuritis)

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24
Q

B2 function/deficiency

A

riboflavin-oxidation/reduction cofactor, cheilosis(mouth) corneal vascularization

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25
Q

B3 function/deficiency

A

niacin-NAD(from tryptophan), glossitis/pellagra(dermatitis, dementia, diarrhea)

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26
Q

B6 deficiency

A

convulsions, peripheral neuropathy, sideroblastic anemia

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27
Q

B9 vs. B12 deficiency

A

folate-macrocytic megaloblastic anemia, cobalamin-same+neurologic symptoms&hypersegmented neutrophils

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28
Q

vitamen E deficiency

A

fragile erythrocytes, muscle weakness, posterior column& spinocerebeller tract demyelination

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29
Q

hair loss, hypogonad, delayed wound healing, anosmia

A

zinc deficiency

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30
Q

pyruvate dehydrogenase deficiency&Tx

A

neuro defects, lactic acidosis, lysine/leucine(ketogenic AA)

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31
Q

NADPH oxidase deficiency

A

chronic granulomatous disease(catalase+ organisms)

32
Q

G6PD deficiency

A

hemolytic anemia, bite cells/heinz body, X-recessive

33
Q

fructose metabolism disorders

A

fructosuria-fructokinase(asymptomatic), fructose intolerance-aldolase B(hypoglycemia, jaundice cirrhosis)

34
Q

galactose metabolism disorders

A

galactokinase(mild, infant cataracts), galactosemia-galactose-1-P(cataracts, jaundice, retard, hepatomegaly)

35
Q

essential AA+extra needed in childhood

A

PVT TIM HaLL(CAT-cysteine tyrosine arginine in kids)

36
Q

ornithine transcarbamoylase deficiency

A

X-recessive, high orotic acid/ammonia, low BUN

37
Q

AA derived hormones

A

epi/norepi/dopamine/melanin=phenylalanine/tyrosine(also thyroxine), melatonin/seratonin/niacin=tryptophan, creatine/ urea/NO=arginine, porphyrin=glycine

38
Q

PKU symptoms, Tx

A

autoR, musty odor, eczema, fair skin, seizures Tx-tyrosine

39
Q

alkaptonuria deficiency/symptoms

A

homogentistic acid oxidase(tyrosine breakdown)-black urine, dark connective tissue, arthralgias

40
Q

homocystinuria enzymes/Tx

A

cystathione synthase(B6), homocysteine methytransferase (requires B12). Tx-cysteine

41
Q

cystinuria risk/Tx

A

cystine=2cysteines+disulfide bond, staghorn calculi. Tx-hydrate/alkalinize urine

42
Q

maple syrup urine AA breakdown deficiency

A

branched(leucine/isoleucine/valine) alpha ketoacid dehydrogenase, CNS defects/retardation/death

43
Q

Most common inheritance of metabolic disorders

A

autosomal recessive

44
Q

hartnup disease possible sequelae

A

pellagra(excrete tryptophan/not absorb in gut)

45
Q

cramps&myoglobinuria w/exercise

A

McArdle-glycogen phosphorylase(muscle)

46
Q

severe fasting hypoglycemia, hepatomegaly, high lactate

A

von gierke’s disease-glucose-6-Pase

47
Q

moderate fasting hypoglycemia, normal lactate

A

Cori’s disease-debranching enzyme(alpha1,6 glucosidase)

48
Q

cardiomegaly/systemic findings(early death)

A

pompe’s disease-lysosomal 1,4 glucosidase(acid maltase)

49
Q

peripheral neuropathy, optic atrophy, globoid cells

A

Krabbe’s disease-galactocerebrosidase

50
Q

demyelination w/ ataxia, dementia

A

metachromic leukodystrophy-arylsulfatase A deficiency, cerebroside sulfate accumulates

51
Q

neurodegeneration, cherry red macula, foam cells, hepatosplenomegaly

A

niemann pick-sphingomyelinase

52
Q

cherry red, no hepatosplenomegaly, onion skin lysosomes

A

tay-sachs- hexosaminidase A deficiency, Gm2 ganglioside accumulation

53
Q

tissue paper M0, hepatosplenomegaly, aseptic femoral necrosis, bone crises

A

Gauchers-glucocerebrosidase

54
Q

peripheral neuropathy, angiokeratomas, CVD, renal dysfx

A

fabrys-alpha-galactosidase A-accumulates ceramide trihexoside. Xrecessive

55
Q

developmental delay, gargoyle, hepatosplenomegaly diseases

A

Hurler’s-corneal clouding-alphaL iduronidase deficiency, hunter’s-agressive behaivor-iduronate sulfatase deficiency-X-recessive

56
Q

high VLDL/TG

A

type IV dyslipidemia-autoD-hepatic overproduction of VLDL-pancreatitis

57
Q

high LDL/cholesterol

A

type II dyslipidemia-autoD, absent LDL-R(tendon xanthomas, corneal arcus, atherosclerosis)

58
Q

high chylomicrons/TG/cholesterol

A

type I dyslipidemia-LPL deficiency or abnormal apoCII, pancreatitis, hepatosplenomegaly, xanthomas(NO ATHEROSCLEROSIS)

59
Q

ataxia, night blindness, acanthocytosis, steatorrhea

A

abetalipoproteinemia-MTP gene mutation, low B48/100/ chylomicron/VLDL. Lipid accumulates in enterocytes

60
Q

low AFP/estriol, high inhibin A/b-HCG, nuchal translucent

A

Down’s-trisomy 21, meiotic nondisjunction, ASD, duodenal atresia, toe gap

61
Q

low AFP/estriol/b-HCG, normal inhibin A

A

Edwards-trisomy 18(Election age), small jaw, low ears, rockerbottom feet. Die <1 year

62
Q

low b-HCG/PAPP-A, nuchal translucency

A

Patau-trisomy 13(Puberty)-microcephaly, polydactyly, heart disease, rockerbottom feet. Die <1 year

63
Q

crying cat syndrome

A

cri-du-chat(Cat)-microdeletion chromosome 5-microcephaly, VSD

64
Q

elfin face, friendly, hypercalcemia

A

Williams syndrome-chromosome 7, cardiovascular issues

65
Q

22q11 deletions

A

CATCH-22-Cleft palate, Abnormal facies, Thymic aplasia, Cardiac defects, Hypocalcemia(PT aplasia). 3rd/4th pouch

66
Q

trincleotide repeat expansion diseases

A

huntingtons(CAG), myotonic dystrophy(CTG), Fragile X(CGG), Friedreich’s ataxia(GAA)

67
Q

large testes/face/jaw/ears, autism, mitral valve prolapse

A

Fragile X-xrecessive FMR1 methylation defect

68
Q

recurrent pulmonary infections, nasal polyps, meconium ileus, pancreatic insufficiency

A

cystic fibrosis, CFTR gene-chromosome 7 deletion of Phe 508, defective Cl- channels-M infertility/vitamin deficiency, Tx-N-acetylcysteine

69
Q

Duchennes vs Beckers

A

D-deleted dystrophin early onset, pelvic then ascending weakness, calf pseudohypertrophy. B-mutated, later onset.

70
Q

X-recessive diseases

A

Be Wise, Fools GOLD Heeds Silly HOpe(Brutons, Wiscott aldrich, Fabry’s, G6PD, Ocular albinism, Lesch-nyhan, Duchennes/beckers, Hunter Syndrome, Hemophilia, Ornithine transcarbamoylase)

71
Q

depression, progressive dementia, choreiform motion

A

Huntingtons-c4, caudate atrophy, low GABA/Ach

72
Q

Marfan associations

A

(fibrillin1) AAA, floppy mitral valve, lens subluxation

73
Q

NF 1 vs 2

A

1=cafe-au-lait spots, neural/eye tumors, skeletal disorders, optic gliomas, c17, 2=bilateral acoustic schwannomas, cataracts, NF2 gene c22

74
Q

Tuberous sclerosis findings

A

facial lesions, hypopigmented skin, retinal hamartomas, seizures, retardation, renal cysts/angiolipomas, cardiac rhabdomyomas, astrocytomas(incomplete penetrance)

75
Q

retinal/cerebellar/medullary hemangioblastomas, bilateral renal cell carcinomas

A

von-hippel-lindau(3 words-c3) VHL gene activates HIF= angiogenic growth factors

Board Associations (22 decks)

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