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Flashcards in lysosomal storage dz Deck (27):
1

high GM2

tay sachs

2

high ceramide trihexoside

fabry dz

3

high glucocerebrosid

gaucher's dz

4

high sphingomyelin

niemann pick dz

5

high galactocerebroside

krabbe dz

6

high sulfatides

metachromatic leukodystrophy

7

high heparin sulfate

hurlers syndrome and hunters syndrome

8

what enzyme is dysfxnal in hurlers syndrome

alpha-L-iduronidase

9

what enzyme is dysfxnal in hunters syndorme

iduronate sulfatase

10

what enzyme is dysfxnal in tay sachs

hexosaminidase

11

what enzyme is dysfxnal in fairy dz

alpha galactosidase

12

what enzyme is dysfxnal in goucher's dz

glucocerebrosidase

13

what enzyme is dysfxnal in nieman pick dz

sphingomyelinase

14

what enzyme is dysfxnal in krabbe dz

galactocerebrosidase

15

what enzyme is dysfxnal in metachromatic leukodystrophy

arylsulfatase A

16

what 2 lysosomal storage dz.'s are x-linked R

hunters and fabrys

17

what 2 dz.'s have cherry Red spot on macula and how do you differentiate them

tay sachs and niemann pick; niemann pick has hepatosplenomegaly

18

what is the MC lysosomal storage dz

gaucher's dz

19

what dz presents as central and peripheral demyelination w/ ataxia and dementia

metachromatic leukodystrophy

20

what has crumpled tissue paper lipid laden macrophages

gauchers dz

21

globoid cells are seen in

krabbbe dz

22

onion skin lysosomes are seen in

tay sachs

23

angiokeratomas are seen in

fabry dz

24

optic atrophy is seen in

krabbe dz

25

aseptic necrosis of femur is seen in

gauchers

26

corneal clouding

hurlers syndrome

27

no corneal clouding but is highly aggressive

hunters