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J's Deck > Storage Disease > Flashcards

Storage Disease Flashcards

(37 cards)

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1
Q

osteopenia, pancytopenia

A

Gaucher

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2
Q

a-L-iduronidase

GAGs

A

Hurler

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3
Q

cherry red macula

A

Niemann-Pick

Tay-Sachs

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4
Q

Metachromatic Leukodystrophy

A

arylsulfatase A

cerebroside sulfate

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5
Q

Krabbe

A

galactocerebrosidase

galactocerebrosidase + psychosine

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6
Q

Hurler

A

a-L-iduronidase

GAGs

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7
Q

glycogen storage disease with normal glucose levels

A

Pompe

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8
Q

sphingomyelinase

foamy m-phages

A

Niemann-Pick

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9
Q

Gaucher organelle

A

m-phages (CNS, liver, bone)

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10
Q

glycogen branching enzyme

glycogen

A

Anderson

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11
Q

1: von Gierke

A

glucose-6-phosphate

glycogen

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12
Q

Gaucher*

A

glucocerebrosidase (acid b-glucosidase)

glucocerebrosides

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13
Q

galactocerebrosidase

galactocerebrosidase + psychosine

A

Krabbe

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14
Q

Krabbe organelle

A

myelin sheath

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15
Q

Tay-Sachs

A

heXaminidase A

Gm2 gangliosides

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16
Q

glucocerebrosidase (acid b-glucosidase)

glucocerebrosides

17
Q

a-galactosidase A

Gb3/ceramide trihexoside

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A

Fabry (X-linked)

18
Q

iduronate sulfatase

GAGs

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A

Hunter (X-linked)

19
Q

glucose-6-phosphate

glycogen

20
Q

Niemann-Pick organelle

21
Q

metachromatic leukodystrophy organelle

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A

white matter – demyelinate

22
Q

myophosphorylase (glycogen phosphorylase)

glycogen

23
Q

Hunter (X-linked)

hunters see clearly and aim for the X

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A

iduronate sulfatase

GAGs

24
Q

arylsulfatase A

cerebroside sulfate

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A

Metachromatic Leukodystrophy

25
3: Cori
debranching enzyme/a-1,6-glucosidase | glycogen
26
2. Pompe
``` acid maltase (acid-a-glucosidase) glycogen (lysosome) ```
27
5. McArdle
myophosphorylase (glycogen phosphorylase) | glycogen
28
Tay-Sachs organelle
neurons
29
Fabry (X-linked)
a-galactosidase A | Gb3/ceramide trihexoside
30
Fabry organelle
early: skin, BV, cornea, GI late: kidney, heart, CNS
31
Niemann-Pick | No man picks his nose with his sphinger
sphingomyelinase | foamy m-phages
32
debranching enzyme/a-1,6-glucosidase | glycogen
Cori
33
angiokeratomas, corneal streaks
Fabry
34
tissue paper
Gaucher
35
``` acid maltase (acid-a-glucosidase) glycogen (lysosome) ```
Pompe
36
heXaminidase A | Gm2 gangliosides
Tay-Sachs
37
4. Anderson
glycogen branching enzyme | glycogen

J's Deck (18 decks)

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