Asamoah/Clarke-Lysosomal Storage Disorders Flashcards by Erika Chandler | Brainscape

Q

Hurler/Scheie Enzyme Deficiency

A

alpha-L-iduronidase

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Q

Hurler/Scheie Metabolite accumulation

A

dermatan and heparin sulfate

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Q

Hurler/Scheie ERT

A

Aldurazyme

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Q

Gaucher Enzyme Deficiency

A

beta-glucosidase

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Q

Gaucher Metabolite Accumulation

A

glucocerebroside or glucosylceramide

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Q

Gaucher ERT

A

Cerezyme/Imiglucerase

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Q

Hunter Enzyme Deficiency

A

Iduronate sulfatase

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Q

Hunter Metabolite Accumulation

A

dermatan and heparin sulfate

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Q

Hunter ERT

A

Elaprase/Idursulfase

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Q

Fabry Enzyme Deficiency

A

alpha-galactosidase A

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Q

Fabry Metabolite Accumulation

A

globotriaosyl-ceramide/galabiosylceramide

according to Clarke: globosides

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Q

Fabry ERT

A

Fabrazyme

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Q

Maroteaux-Lamy Enzyme Deficiency

A

N-acetylgalactosamine 4-sulfate

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Q

Maroteaux-Lamy Metabolite Accumulation

A

Dermatan sulfate

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Q

Maroteaux-Lamy ERT

A

Naglazyme

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Q

Pompe Enzyme Deficiency

A

acid maltase or alpha glucosidase

Q

Pompe Metabolite Accumulation

A

glycogen

Q

Pompe ERT

A

Myozyme/Lumizyme

Q

Morquio A Enzyme Deficiency

A

N-acetylgalactosamine-6-sulfatase

Q

Morquio A Metabolite Accumulation

A

keratin sulfate or chondroitin sulfate

Q

Morquio A ERT

A

Elosulfase (Vimizim)

Q

Tay-Sachs Enzyme Deficiency

A

HEXA

Q

Tay-Sachs Metabolite Accumulation

A

GM2

Q

Krabbe’s Leukodystrophy Enzyme Deficiency

A

beta-galactosidase

Q

Krabbe’s Leukodystrophy Metabolite Accumulation

A

galactocerebrosides

Q

Neimann-Pick Enzyme Deficiency

A

sphingomyelinase

Q

Neimann-Pick Metabolite Accumulation

A

sphingomyelin