Biochem - storage disorders Flashcards by Jullet Han

Gaucher enzyme

Glucocerebroside

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Krabbe enzyme

Galactocerebroside

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Fabry accumulated substrate

ceramide trihexose

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Metachromatic Leukodystrophy enzyme

Arylsulfatase

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Cherry red spot on macula progressive neurodegeneration + developmental delay

lysosomes w/ onion skinning

no hepatosplenomeagly

Tay Sachs

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aggressive

no corneal clouding

Hunter

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peripheral neuropathy

angiokeratoma

cardiovascular + renal problems

Fabry

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Tay sachs accumulated substrate

GM2 ganglioside

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developmental delay

airway obstruction

gargoylism

corneal clouding

hepatosplenomeagly

hurler

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Hurler enzyme

alpha-L-iduronidase

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Gaucher accumulated substrate

glucocerebroside

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Krabbe accumulated substrate

galactocebrosidase

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Hunter accumulated substrate

Heparin sulfate + Dermatan Sulfate

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Cherry red spot on macula

progressive neurodegeneration

foamy macrophages

hepatosplenomeagly

Niemann Pick

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pancytopenia

lipid laden macrophages resembling crumpled tissue paper

hepatosplenomeagly

aspetic necrosis of femur/bone

Gaucher

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Niemann Pick enzyme

Sphingomyelin

Hurler accumulated substrate

Heparin sulfate + Dermatan Sulfate

Fabry enzyme

alpha-galactosidase A

Niemann Pick accumulated substrate

Sphingomyelin

Hunter enzyme

Iduronate Sulfatase

peripheral neuropathy

progressive developmental delay

optic atrophy

Krabbe

(globoid cells are present)

tay sachs enzyme

hexosaminidase

dementia + ataxia + muscle wasting

Metachromatic leukodystrophy - causes central and peripheral demyelination

Metachromatic leukodystrophy accumulated substrate

cerebroside sulfate

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

all are AR inheritance, except Hunter and Fabry = both XLR