neurocutaneous disorders Flashcards by Hoi Wan

fabry’s deficient enzyme

a-galactosidase A

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gaucher’s deficient enzyme

glucocrebrosidase

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niemann pick enzyme

sphingomyelinase

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tay sachs deficient enzyme

hexosaminidase A

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krabbe’s deficient enzyme

galactocerebrosidase

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metachromatic leukodystrophy enzyme

arylsulfatase A

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hurler’s enzyme

a-L iduronidase

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hunter’s enzyme

iduronate sulfatase

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fabry’s substrate

ceramide

trihexoside

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gaucher’s substrate

glucocerebroside

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tay sachs substrate

GM2 ganglioside

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Krabbe’s substrate

galactocerebroside

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metachromatic leukodystrophy substrate

cerebroside sulfate

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hurler’s substrate

heparan sulfate

dermatan sulfate

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hunter’s substrate

heparan sulfate dermatan sulfate

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X linked recessive

Fabry’s

hunter’s

cherry red spot with no hepatosplenomegaly

tay sachs

cherry red macula with hepatosplenomegaly

niemann Pck

foam cells

neimann pick

macrophages that look like crumpled tissue paper

Gaucher’s

onion skin lysosomes

tay sachs

globoid cells

krabbe’s

hurler’s presentation

gargoylism
airway obstruction
corneal clouding

hunter’s presentation

hurler’s with NO corneal clouding

fabry's presentation

peripheral neuropathy angiokeratomas CV/Renal dz

gaucher's disease presentation

aseptic necrosis of femur bone crisis hepatosplenomegaly

Nieman pick presentation

neurodegeneration hepatosplenomegally cherry red macula

Tay sachs presentation

neurodegeneration developmental delay cherry red macula NO hepatomegaly

krabbe presentation

peripheral neuropathy developmental delay optic atrophy