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Biochem Flashcards

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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
B3 function/deficiency
niacin-NAD(from tryptophan), glossitis/pellagra(dermatitis, dementia, diarrhea)
26
B6 deficiency
convulsions, peripheral neuropathy, sideroblastic anemia
27
B9 vs. B12 deficiency
folate-macrocytic megaloblastic anemia, cobalamin-same+neurologic symptoms&hypersegmented neutrophils
28
vitamen E deficiency
fragile erythrocytes, muscle weakness, posterior column& spinocerebeller tract demyelination
29
hair loss, hypogonad, delayed wound healing, anosmia
zinc deficiency
30
pyruvate dehydrogenase deficiency&Tx
neuro defects, lactic acidosis, lysine/leucine(ketogenic AA)
31
NADPH oxidase deficiency
chronic granulomatous disease(catalase+ organisms)
32
G6PD deficiency
hemolytic anemia, bite cells/heinz body, X-recessive
33
fructose metabolism disorders
fructosuria-fructokinase(asymptomatic), fructose intolerance-aldolase B(hypoglycemia, jaundice cirrhosis)
34
galactose metabolism disorders
galactokinase(mild, infant cataracts), galactosemia-galactose-1-P(cataracts, jaundice, retard, hepatomegaly)
35
essential AA+extra needed in childhood
PVT TIM HaLL(CAT-cysteine tyrosine arginine in kids)
36
ornithine transcarbamoylase deficiency
X-recessive, high orotic acid/ammonia, low BUN
37
AA derived hormones
epi/norepi/dopamine/melanin=phenylalanine/tyrosine(also thyroxine), melatonin/seratonin/niacin=tryptophan, creatine/ urea/NO=arginine, porphyrin=glycine
38
PKU symptoms, Tx
autoR, musty odor, eczema, fair skin, seizures Tx-tyrosine
39
alkaptonuria deficiency/symptoms
homogentistic acid oxidase(tyrosine breakdown)-black urine, dark connective tissue, arthralgias
40
homocystinuria enzymes/Tx
cystathione synthase(B6), homocysteine methytransferase (requires B12). Tx-cysteine
41
cystinuria risk/Tx
cystine=2cysteines+disulfide bond, staghorn calculi. Tx-hydrate/alkalinize urine
42
maple syrup urine AA breakdown deficiency
branched(leucine/isoleucine/valine) alpha ketoacid dehydrogenase, CNS defects/retardation/death
43
Most common inheritance of metabolic disorders
autosomal recessive
44
hartnup disease possible sequelae
pellagra(excrete tryptophan/not absorb in gut)
45
cramps&myoglobinuria w/exercise
McArdle-glycogen phosphorylase(muscle)
46
severe fasting hypoglycemia, hepatomegaly, high lactate
von gierke's disease-glucose-6-Pase
47
moderate fasting hypoglycemia, normal lactate
Cori's disease-debranching enzyme(alpha1,6 glucosidase)
48
cardiomegaly/systemic findings(early death)
pompe's disease-lysosomal 1,4 glucosidase(acid maltase)
49
peripheral neuropathy, optic atrophy, globoid cells
Krabbe's disease-galactocerebrosidase
50
demyelination w/ ataxia, dementia
metachromic leukodystrophy-arylsulfatase A deficiency, cerebroside sulfate accumulates
51
neurodegeneration, cherry red macula, foam cells, hepatosplenomegaly
niemann pick-sphingomyelinase
52
cherry red, no hepatosplenomegaly, onion skin lysosomes
tay-sachs- hexosaminidase A deficiency, Gm2 ganglioside accumulation
53
tissue paper M0, hepatosplenomegaly, aseptic femoral necrosis, bone crises
Gauchers-glucocerebrosidase
54
peripheral neuropathy, angiokeratomas, CVD, renal dysfx
fabrys-alpha-galactosidase A-accumulates ceramide trihexoside. Xrecessive
55
developmental delay, gargoyle, hepatosplenomegaly diseases
Hurler's-corneal clouding-alphaL iduronidase deficiency, hunter's-agressive behaivor-iduronate sulfatase deficiency-X-recessive
56
high VLDL/TG
type IV dyslipidemia-autoD-hepatic overproduction of VLDL-pancreatitis
57
high LDL/cholesterol
type II dyslipidemia-autoD, absent LDL-R(tendon xanthomas, corneal arcus, atherosclerosis)
58
high chylomicrons/TG/cholesterol
type I dyslipidemia-LPL deficiency or abnormal apoCII, pancreatitis, hepatosplenomegaly, xanthomas(NO ATHEROSCLEROSIS)
59
ataxia, night blindness, acanthocytosis, steatorrhea
abetalipoproteinemia-MTP gene mutation, low B48/100/ chylomicron/VLDL. Lipid accumulates in enterocytes
60
low AFP/estriol, high inhibin A/b-HCG, nuchal translucent
Down's-trisomy 21, meiotic nondisjunction, ASD, duodenal atresia, toe gap
61
low AFP/estriol/b-HCG, normal inhibin A
Edwards-trisomy 18(Election age), small jaw, low ears, rockerbottom feet. Die <1 year
62
low b-HCG/PAPP-A, nuchal translucency
Patau-trisomy 13(Puberty)-microcephaly, polydactyly, heart disease, rockerbottom feet. Die <1 year
63
crying cat syndrome
cri-du-chat(Cat)-microdeletion chromosome 5-microcephaly, VSD
64
elfin face, friendly, hypercalcemia
Williams syndrome-chromosome 7, cardiovascular issues
65
22q11 deletions
CATCH-22-Cleft palate, Abnormal facies, Thymic aplasia, Cardiac defects, Hypocalcemia(PT aplasia). 3rd/4th pouch
66
trincleotide repeat expansion diseases
huntingtons(CAG), myotonic dystrophy(CTG), Fragile X(CGG), Friedreich's ataxia(GAA)
67
large testes/face/jaw/ears, autism, mitral valve prolapse
Fragile X-xrecessive FMR1 methylation defect
68
recurrent pulmonary infections, nasal polyps, meconium ileus, pancreatic insufficiency
cystic fibrosis, CFTR gene-chromosome 7 deletion of Phe 508, defective Cl- channels-M infertility/vitamin deficiency, Tx-N-acetylcysteine
69
Duchennes vs Beckers
D-deleted dystrophin early onset, pelvic then ascending weakness, calf pseudohypertrophy. B-mutated, later onset.
70
X-recessive diseases
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
depression, progressive dementia, choreiform motion
Huntingtons-c4, caudate atrophy, low GABA/Ach
72
Marfan associations
(fibrillin1) AAA, floppy mitral valve, lens subluxation
73
NF 1 vs 2
1=cafe-au-lait spots, neural/eye tumors, skeletal disorders, optic gliomas, c17, 2=bilateral acoustic schwannomas, cataracts, NF2 gene c22
74
Tuberous sclerosis findings
facial lesions, hypopigmented skin, retinal hamartomas, seizures, retardation, renal cysts/angiolipomas, cardiac rhabdomyomas, astrocytomas(incomplete penetrance)
75
retinal/cerebellar/medullary hemangioblastomas, bilateral renal cell carcinomas
von-hippel-lindau(3 words-c3) VHL gene activates HIF= angiogenic growth factors

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