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Undeleted > Biochem > Flashcards

Biochem Flashcards

1
Q

Megaloblastic anmie
AR
failure to thrive

A

orotic aciduria

cannot convert Orotic acid to UMP

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2
Q

Child
low WBC count
AR
multiple illnesses

A

adeonsine deaminase deficiency
cause of SCID
lack of lymphocytes

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3
Q

Mental retardation
self mutilation
hyperuricemia

A

Lesch-Nyhan syndrome
HGPRT absent
defect in purine salvage

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4
Q

Inhibitor of topoisomerase

A

fluroquinolones

via DNA gyrase

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5
Q

role of DNA pol III

A

only prokaryotes

proofreading and synthesis

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6
Q

role of DNA pol I

A

prokaryotes only
degrades RNA primer
synthesis

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7
Q

Mutated nucleotide excision repair

A

xeroderma pigmentosum

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8
Q

Mismatch repair mutation

A

hereditary nonpolyposis colorectal cancer

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9
Q

Mutation of nonhomologous end joining

A

ataxia telangiectasia

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10
Q

RNA pol roles

A

I-make rRNA
II-make mRNA
III-make tRNA

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11
Q

Inhibitor of RNA pol II

A

alpha-amanitin from death cap mushrooms

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12
Q

Tetracycline MOA

A

binds 30s RNAsubunit to prevent tRNA attachment

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13
Q

Aminoglycosides MOA

A

bind 30s RNA subunit to inhibit initiation complex

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14
Q

Chloramphenicol MOA

A

binds 50s RNA subunit to inhibit transferase

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15
Q

Macrolide MOA

A

bind 50s RNA subunit to prevent tRNA release

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16
Q

Child
Coarse facial features
clouded corneas
decrease joint movement

A

I-cell disease

failure of mannose-6-phosphate addition to lysosomes

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17
Q

Recurrent pyogenic infections
partial albinism
neuorpathy

A

Chediak-Higashi syndrome
LYST gene mutation
microtubule transport problem

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18
Q

Situs inversus
sterility
recurrent sinusitis

A

Kartagener’s syndrome

dynein arm defect, cilia immotililty

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19
Q

Stretchy skin
tendency to bleed
hypermobile joints

A

Ehlers-Danlos
abn type I or V collagen
problem with collagen cross-linking

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20
Q

Blue sclerae
hearing loss
dental problems
fractures

A

osteogenesis imperfecta
abn type I collagen
brittle bone disease

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21
Q

Progressive nephritis
deafness
ocular problems

A

Alport syndrome
abn type IV collagen
basement membrane of glomerulus affected
X linked

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22
Q

Tall thin male

tendency to bleed

A

Marfan’s syndrome
fibrillin-1 defect
arachnodactyly
cystic medial necrosis of aorta/aortic dissection

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23
Q

Mental retardation
hyperphagia/obesity
hypogonadism

A

Prader Willi syndrome

paternal not expressed on chromosome 15

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24
Q

Mental retardation
seizures
inappropriate laughter
ataxia

A

Angelman’s syndrome

maternal not expressed on chromosome 15

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25
Q

Dwarfism
normal trunk
lg head

A

achondroplasia

defect of fibroblast growth factor 3 (FGF3)

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26
Q

multiple lg cysts on the kidney
flank pain
hematuria/HTN

A

ADPKD

mutation of PDK1 on chromosome 16

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27
Q

Recurrent epistaxis
telangiectasia
skin discolorations

A

Osler-Weber Rendu syndrome
hereditary hemorrhagic telangiectasia
arteriovenous malformations

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28
Q

Caudate atrophy
progressive dementia
family hx

A

Huntington’s disease
decreased GABA and ACh in brain
CAG repeat on chromosome 4

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29
Q

Pigmented iris
ocular problems
cafe-au-lait spots

A

Neurofibromatosis type 1/von Recklinghausen disease
Lisch nodules of iris
long arm of chromosome 17 defect

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30
Q

Juvenile cataracts

hearing loss

A

Neurofibromatosis type 2
bilateral acoustic schwannomas
NF2 gene on chromosome 22

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31
Q

Ash leaf spots (hypopigmented)
seizures
adenoma sebaceum

A

Tuberous sclerosis
renal angiomyolipomas/cardiac rhabdomyomas
retinal hamartoma

32
Q

hemangioblastomas of retina, cerebellum and medulla

bilateral renal cell carcinomas

A 
Von Hippel-Lindau disease
VHL gene (tumor suppressor) on chromosome 3
33
Q

Male with infertility
pancreatitis
chronic bronchitis
tx with N-acetylcysteine

A 
Cystic fibrosis
AR defect in CFTR on chromosome 7
deletion of Phe 508
lung/pancreas mucus plugs
recurrent infections (pseudomonas/s. aureus)
34
Q

Male age 3
Pseudohypertrophy of calves
weakness of pelvic muscles
tripods to get up

A

Duchenne’s muscular dystrophy
deletion of dystrophin gene
X linked

35
Q

Mental retardation
large testes
autism
long face

A

Fragile X syndrome
X linked defect of FMR1 gene expression
Mitral valve prolapse seen
CGG trinucleotide repeat

36
Q

GAA trinucleotide repeat

A

Friedreich’s ataxia

37
Q

CAG trinucleotide repeat

A

Huntington’s disease

38
Q

CTG trinucleotide repeat

A

Myotonic dystrophy

39
Q

CGG trinucleotide repeat

A

Fragile X syndrome

40
Q

Down’s syndrome asscs

A

Trisomy 21
Atrial septal defect
increased Alzheimer’s/ALL at early age
simian crease

41
Q

Small mouth
low ears
mental retardation

A

Edward’s syndrome
trisomy 18
death early
congenital heart disease

42
Q

Small eyes
midline structures merged
polydactyly

A 
Patau's syndrome
trisomy 13
holoproencephaly
small head/eyes
death within a year
43
Q

Microcephaly
high pitched crying/mewing
VSD

A

Cri du chat syndrome

chromosome 5 microdeletion

44
Q

Elfin facies
hypercalcemia
extreme friendliness
CV problems

A

Williams syndrome
microdeletion of chromosome 7
deleted elastin gene

45
Q

Confusion,memory loss
ataxia
loss of fields of vision

A

Wernicke-Korsakoff
thiamine deficiency (B1)
confabulation of stories
medial dorsal nucleus of thalamus and mammillary bodies damaged

46
Q

Diarrhea
dementia
dermatitis

A

Niacin (B3) defiency

pellegra

47
Q

neurogenic defects in infancy

lactic acidosis

A

Pyruvate dehydrogenase complex deficiency

mutation of X linked gene for E1-alpha of PDC

48
Q 
Increased infections (s. aureus/aspergillus)
defect in NADPH oxidase
A

Chronic granulomatous disease

due to catalase (+) bugs

49
Q

Hemolytic anemia

Heinz bodies/bite cells seen in RBC’s

A

G6PD deficiency
NADPH cannot reduce glutathione in RBC’s
oxidative damage done

50
Q

Infantile cataracts
high serum galactose
AR

A

Galactokinase deficiency

galactitol causes cataracts

51
Q

Child
jaundice/failure to thrive
hepatomegaly
infantile cataracts

A

Classic galactosemia
G1-UDP transferase absent
accumulation of toxic substances

52
Q 
Blurred vision
asterixis
slurring of speech
vomiting
liver disease
A

hyperammonemia
causes cerebral edema
from excess NH4+, depletes alpha-ketoglutarate
TCA cycle inhibited

53
Q

Musty odor
growth retardation
fair skin
seizures

A

phenylketonuria
decreased phenylalanine hydroxylase
AR
excess PK in urine

54
Q

Albinism cause

A

defective tyrosine transporters or tyrosinase/lack of neural crest cell migration
lack of melanin
increase skin cancer

55
Q

Osteoporosis
lens subluxation
atherosclerosis

A

homocystinuria

AR

56
Q

CNS defects

urine smells like maple syrup

A

Maple syrup urine disease

branched chain AA’s cannot be degraded

57
Q 
Pellegra sx (diarrhea/dementia/dermatitis)
not B3 deficiency
A

Hartnup disease
defective neutral AA transporter
tryptophan excretion in urine

58
Q

Hypoglycemia with fasting
hepatomegaly
excess liver glycogen

A

Von Gierke’s disease
Glc-6-phosphatase deficiency
AR

59
Q

Cardiomegaly

early death

A

Pompe’s disease

Lysosomal alpha 1,4-glucosidase deficiency

60
Q

increased glycogen in muscle

painful muscle cramps with strenous exercise

A

McArdle’s disease

skeletal m. glycogen phosphorlyase deficiency

61
Q

Peripheral neuropathy
angiokeratoma
CV/renal disease

A

Fabry’s disease
alpha-galactosidease A defect
ceramide/trihexoside

62
Q

Hepatosplenomegaly
necrosis of femur
crumpled tissue paper cells

A

Gaucher’s disease

glucocerebrosidase defect

63
Q

neurodegeneration
cherry red macula
hepatosplenomegaly

A

Niemann-Pick disease

sphingomyelinase defect

64
Q

neurodegeneration
lysosomes with skin skin
no hepatosplenomegaly
cherry red macula

A

Tay-Sachs disease
hexosaminidase A defect
GM2 ganglioside

65
Q

Peripheral neuropathy
optic atrophy
developmental delay

A

Krabbe’s disease

galactocerebrosidase

66
Q

central/peripheral demyelination
ataxia
dementia

A

metachromatic leukodystrophy

arylsulfatase A defect

67
Q

Gargoylism
corneal clouding
developmental delay

A

Hurler’s syndrome
alpha-L-iduronidase defect
AR

68
Q

Gargoylism

aggressive behavior

A

Hunter’s syndrome
iduronate sulfatase defect
X linked

69
Q

Pancreatitis
hepatosplenomegaly
xanthomas
increased TG/cholesterol in blood

A

hyperchylomicronemia
AR
lipoprotein lipase defect or apoCII defect

70
Q

Atherosclerosis at young age
xanthoma of Achilles
corneal arcus
increased LDL/cholesterol in blood

A

familial hypercholesterolemia
AD
no LDL receptors

71
Q

Pancreatitis
increased VLDL in blood
increased VLDL and TG in blood

A

hypertriglyceridemia
AD
hepatic overproduction of VLDL

72
Q

Failure to thrive
steatorrhea
ataxia
acanthocytosis (spiked RBC’s)

A

abetalipoproteinemia
MTP gene mutation
decreased B48 and B100
decreased chylomicron and VLDL production

73
Q

Pancreatitis
increased VLDL in blood
increased VLDL and TG in blood

A

hypertriglyceridemia
AD
hepatic overproduction of VLDL

74
Q

Atherosclerosis at young age
xanthoma of Achilles
corneal arcus
increased LDL/cholesterol in blood

A

familial hypercholesterolemia
AD
no LDL receptors

75
Q

Pancreatitis
hepatosplenomegaly
xanthomas
increased TG/cholesterol in blood

A

hyperchylomicronemia
AR
lipoprotein lipase defect or apoCII defect

76
Q

Gargoylism

aggressive behavior

A

Hunter’s syndrome
iduronate sulfatase defect
X linked

77
Q

Gargoylism
corneal clouding
developmental delay

A

Hurler’s syndrome
alpha-L-iduronidase defect
AR

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