Sphingolipidoses Flashcards

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1
Q

Fabrys

A
XLR
Alpha galactosidase
Globotriasoyl ceramide 
Angiokeratoma
Peripheral neuropathy 
Glomerulopathy
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2
Q

Tay Sachs

A
AR
Beta hexosaminidaseA
GM2 ganglioside
Macular cherry red spot
Progressive neurodegeneration
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3
Q

Gauchers

A
Beta gluco cerebrosidases
Glucocerebroside
Hepatosplenomegaly
Pancytopenia
Bone pain/osteopenia
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4
Q

Niemann pick

A
AR
Sphingomyelinase
Sphingomyelin
Macular cherry red spot
Progressive neurodegeneration
HSM
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5
Q

Krabbe

A
AR
galactocerebrosidase
Galactocerebroside
Psychosine 
Progressive neurodegeneration 
Peripheral neuropathy 
Optic atrophy
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6
Q

Meta chromatic leukodystrophy

A

Arylsulfatase A
Cerebroside sulfate
Progressive neurodegeneration
Peripheral neuropathy

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