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J's Deck > Storage Disease > Flashcards

Storage Disease Flashcards

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

A

Gaucher

17
Q

a-galactosidase A

Gb3/ceramide trihexoside

A

Fabry (X-linked)

18
Q

iduronate sulfatase

GAGs

A

Hunter (X-linked)

19
Q

glucose-6-phosphate

glycogen

A

von Gierke

20
Q

Niemann-Pick organelle

A

macrophages

21
Q

metachromatic leukodystrophy organelle

A

white matter – demyelinate

22
Q

myophosphorylase (glycogen phosphorylase)

glycogen

A

McArdle

23
Q

Hunter (X-linked)

hunters see clearly and aim for the X

A

iduronate sulfatase

GAGs

24
Q

arylsulfatase A

cerebroside sulfate

A

Metachromatic Leukodystrophy

25
Q

3: Cori

A

debranching enzyme/a-1,6-glucosidase

glycogen

26
Q
  1. Pompe
A 
acid maltase (acid-a-glucosidase)
glycogen (lysosome)
27
Q
  1. McArdle
A

myophosphorylase (glycogen phosphorylase)

glycogen

28
Q

Tay-Sachs organelle

A

neurons

29
Q

Fabry (X-linked)

A

a-galactosidase A

Gb3/ceramide trihexoside

30
Q

Fabry organelle

A

early: skin, BV, cornea, GI
late: kidney, heart, CNS

31
Q

Niemann-Pick

No man picks his nose with his sphinger

A

sphingomyelinase

foamy m-phages

32
Q

debranching enzyme/a-1,6-glucosidase

glycogen

A

Cori

33
Q

angiokeratomas, corneal streaks

A

Fabry

34
Q

tissue paper

A

Gaucher

35
Q 
acid maltase (acid-a-glucosidase)
glycogen (lysosome)
A

Pompe

36
Q

heXaminidase A

Gm2 gangliosides

A

Tay-Sachs

37
Q
  1. Anderson
A

glycogen branching enzyme

glycogen

J's Deck (18 decks)

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