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Biochem > Lysosomal Storage > Flashcards

Lysosomal Storage Flashcards

1
Q

Fabry disease

Enzyme

Substrate

Inheritence

A

Alpha galactosidase

Ceramide trihexoside or GB3 globotriaosyl ceramide

XR

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2
Q

Gaucher disease
Enzyme

Substrate

Inheritance

A

Glucocerebrosidase ( Beta glycosides)

Glucocerebride

AR

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3
Q

Niemann Pick
Findings

Enzyme

Substrate

Inheritance

A

Cherry red macula, hepatosplenomegaly, foam cells

Sphingomyelinase

Sphingomyelin

AR

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4
Q

Tay Sachs

Enzyme

Substrate

Inheritance

A

Cherry red macula, no hepatosplenomegaly.

Hexosaminidase A

GM2 ganglioside

AR

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5
Q

Krabbe disease

A

Destruction of oligodendrocytes

Galactocerebrosidase

Galactocerebroside psychosine

AR

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6
Q

Metachromatic leukodystrophy

A

Arylsulfatase A

Cerebroside sulfate

AR

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7
Q

Hurler

A

Corneal clouding

Alpha L iduronidase

Heparan sulfate, dermatan sulfate

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8
Q

Hunter

A

Mild hurler + aggressive behavior no corneal clouding

Iduronatae sulfatase

Heparan sulfate, dermatan sulfate

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Biochem (9 decks)

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