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acvim > Lysosomal storage > Flashcards

Lysosomal storage Flashcards

1
Q

glycoproteinoses

A

fucosidosis, mannosidosis, lafora disease

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2
Q

oligosaccharidoses/glycogenoses

A

GSD 1-4,7

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3
Q

sphngolipidoses

A

cm, galactosialidosis. gldcocerebrosidosis, globoid cell leukodystrophy, metachromatic luekodystrophy, Neumann pick

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4
Q

muccopolysaccharidoses

A

MPS

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5
Q

neuronal ceroid lipofucinoses

A

batten’s disease, cln1-12

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6
Q

lysomal storage

A

glycoproteinosis, oligosacchoridoses,glycogen, sphingolipdosies, muccopolysacchoridoses, neuronal cell lipofucinoses

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7
Q

fucosidosis, FUCA1

A

ess, cerebellar ataxia, dysphonia, dysphagia

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8
Q

m\annosidosis MANB

A

DSH, DLH, Persian, cerebellar ataxia, corneal opacity etc

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9
Q

lafora- EPM2A

A

beagler, basset, poodle, wire-haired dox, dsh

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10
Q

GSD TYPE 1

A

glucose 6 phos, M1211
silky terrier, maltese, other toy
DSH

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11
Q

GSD type 2

A

acid alpha glucodisase, GAA

lapphund dsh

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12
Q

GSD type 3

A

amyloid 1,6 glucosidase (AGL)

akita, god, curly coated retreiver

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13
Q

GSD type 4

A

glycogen branching GBE1

norweigan forest

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14
Q

gsd type 7

A

phosphofructokinase

ESS, cocker,

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15
Q

mucolipidosis II

A

GNPTA (acetyleglucosamine 1 phosphotransferase
DSH
facial dysmorphism dullness

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16
Q

CM1 ganglisidosis

A

beta d galactosidase
beagle, Portuguese water dog, ess, husky, shiba

ash, siamese korat

cerebellar ataxia, paralysis, skeletal dysmorphism

17
Q

cm2 -taysachs

A

beta n acetyl hexoamidase a (HEXA)

GSP, jap chin

18
Q

HeXAB- sandhog

A

golden, toy poodle

Japan, korat, Burmese

19
Q

cm2ab ganglisodisois

A

GM2A activator protein

DSH

20
Q

galactosialidosis

A

alpha nueramidase

shipperke

21
Q

glucocerebrosidosi

A

beta d glucocerbrosidase Sydney silky

22
Q

globoid cell leukodystrophy

A

beta d galacto syl ceramidase gala
estie, cairn beagle, poodle, Irish setter, blue tick

DsH, doh

23
Q

metachromatic leukodystrophy

A

arylsulfatase DSH

progressive motor dysfunction, seizure

24
Q

Neumann pick type c

A

cholesterol esterification deficiency NPC1, NPC2
boxer,
DSH

25
Q

MPSI

A

alpha l iduronidase- IDUA
plott hound, hottie, mbd,
dsh

26
Q

MPSII

A

iduronate 2 sulfate,

lab

27
Q

ups III

A

A- he[arin sulphamidase SGSH- hunt away dog, wire-haired dox
B- n acetyl alpha d glucosaminidase (NGALU)- shcipperkie
E: arylsulfatase G ARSG- staff

acvim (3 decks)

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