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Step 1: Biochem > Lysosomal storage diseases > Flashcards

Lysosomal storage diseases Flashcards

1
Q

Fabry

A

XLR
Deficiency: alpha-galactosidase
Accumulated substance: Globotriaosylceramide (ceramide trihexoside)
Clinical: Angiokeratomas, neuropathy, glomerulopathy

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2
Q

Gaucher

A

AR
Deficiency: Beta-glucocerebrosidase (glucosidase)
Accumulated substance: Glucocerebroside
Clinical: HSM, Pancytopenia, Bone pain

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3
Q

Niemann Pick

A

AR
Deficiency: Sphingomyelinase
Accumulated substance: Sphingomyelin
Clinical: Cherry red macula, neurodegeneration + HSM

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4
Q

Tay Sachs

A

AR
Deficiency: Beta-hexosaminidase A
Accumulated substance: GM2 ganglioside
Clinical: Cherry red macula, neurodegeneration

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5
Q

Metachromatic leukodystrophy

A

AR
Deficiency: Arylsulfatase A
Accumulated substance: Cerebroside sulfate
Clinical: Neurodegeneration, Neuropathy

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6
Q

Krabbe

A

AR
Deficiency: Galactocerebrosidase
Accumulated: Galacterocerebroside, psychosine
Clinical: Neurodegen, neuropathy, OPTIC GLOBOID
ATROPHY

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Step 1: Biochem (10 decks)

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