FINAL 05 - Sphingolipid Storage Diseases Flashcards by Juan Carlos Cornelio

Q

Fucosidosis (Deficient enzyme)

A

α-Fucosidase

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Q

Fucosidosis (Accumulated lipid)

A

H-Isoantigen

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Q

Generalized gangliosidosis (Deficient enzyme)

A

GM1-β-Galactosidase

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Q

Generalized gangliosidosis (Accumulated lipid)

A

GM1-Ganglioside

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Q

Tay-Sachs disease (Deficient enzyme)

A

Hexosaminidase A

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Q

Tay-Sachs disease (Accumulated lipid)

A

GM2-Ganglioside

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Q

Tay-Sachs variant (Deficient enzyme)

A

Hexosaminidase A and B

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Q

Tay-Sachs disease (Accumulated lipid)

A

GM2-Ganglioside

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Q

Fabry disease (Deficient enzyme)

A

α-Galactosidase

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Q

Fabry disease (Accumulated lipid)

A

Globotriaosylceramide

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Q

Ceramide lactoside lipidosis (Deficient enzyme)

A

Ceramide lactosidase

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Q

Ceramide lactoside lipidosis (Accumulated lipid)

A

Ceramide lactoside

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Q

Metachromic leukodystrophy (Deficient enzyme)

A

Arylsulfatase

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Q

Metachromic leukodystrophy (Accumulated lipid)

A

3-Sulfogalactosylceramide

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Q

Krabbe’s disease (Deficient enzyme)

A

β-Galactosidase

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Q

Krabbe’s disease (Accumulated lipid)

A

Galactosylceramide

Q

Gaucher’s disease (Deficient enzyme)

A

β-Glucosidase

Q

Gaucher’s disease (Accumulated lipid)

A

Glucosylceramide

Q

Niermann-Pick’s disease (Deficient enzyme)

A

Sphingomyelinase

Q

Niermann-Pick’s disease (Accumulated lipid)

A

Sphingomyelin

Q

Farber’s disease (Deficient enzyme)

A

Ceramidase

Q

Farber’s disease (Accumulated lipid)

A

Ceramide