Biochem - storage disorders Flashcards Preview

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Flashcards in Biochem - storage disorders Deck (25)
1

Gaucher enzyme

Glucocerebroside

1

Krabbe enzyme

Galactocerebroside

1

Fabry accumulated substrate

ceramide trihexose

2

Metachromatic Leukodystrophy enzyme

Arylsulfatase

3

Cherry red spot on macula progressive neurodegeneration + developmental delay

lysosomes w/ onion skinning

no hepatosplenomeagly

Tay Sachs

3

aggressive

no corneal clouding

Hunter

4

peripheral neuropathy

angiokeratoma

cardiovascular + renal problems

Fabry

5

Tay sachs accumulated substrate

GM2 ganglioside

5

developmental delay

airway obstruction

gargoylism

corneal clouding

hepatosplenomeagly

hurler

6

Hurler enzyme

alpha-L-iduronidase

7

Gaucher accumulated substrate

glucocerebroside

8

Krabbe accumulated substrate

galactocebrosidase

9

Hunter accumulated substrate

Heparin sulfate + Dermatan Sulfate

10

Cherry red spot on macula

progressive neurodegeneration

foamy macrophages

hepatosplenomeagly

Niemann Pick

11

pancytopenia

lipid laden macrophages resembling crumpled tissue paper

hepatosplenomeagly

aspetic necrosis of femur/bone

Gaucher

12

Niemann Pick enzyme

Sphingomyelin

14

Hurler accumulated substrate

Heparin sulfate + Dermatan Sulfate

16

Fabry enzyme

alpha-galactosidase A

18

Niemann Pick accumulated substrate

Sphingomyelin

19

Hunter enzyme

Iduronate Sulfatase

21

peripheral neuropathy

progressive developmental delay

optic atrophy

Krabbe

(globoid cells are present)

22

tay sachs enzyme

hexosaminidase

23

dementia + ataxia + muscle wasting

Metachromatic leukodystrophy - causes central and peripheral demyelination

24

Metachromatic leukodystrophy accumulated substrate

cerebroside sulfate

25

which of these lysosomal storage d/o are autosomal recessive? x linked recessive?

all are AR inheritance, except

Hunter and Fabry = both XLR