Sphingolipidoses Flashcards
1
Q
Fabrys
A
XLR Alpha galactosidase Globotriasoyl ceramide Angiokeratoma Peripheral neuropathy Glomerulopathy
2
Q
Tay Sachs
A
AR Beta hexosaminidaseA GM2 ganglioside Macular cherry red spot Progressive neurodegeneration
3
Q
Gauchers
A
Beta gluco cerebrosidases Glucocerebroside Hepatosplenomegaly Pancytopenia Bone pain/osteopenia
4
Q
Niemann pick
A
AR Sphingomyelinase Sphingomyelin Macular cherry red spot Progressive neurodegeneration HSM
5
Q
Krabbe
A
AR galactocerebrosidase Galactocerebroside Psychosine Progressive neurodegeneration Peripheral neuropathy Optic atrophy
6
Q
Meta chromatic leukodystrophy
A
Arylsulfatase A
Cerebroside sulfate
Progressive neurodegeneration
Peripheral neuropathy