Lysosomal Storage Diseases Flashcards
(+) neurodegeneration
(+) cherry red spot
(-) hepatosplenomegaly
Tay Sachs Disease
Tay Sachs Disease deficient enzyme
HeXosaminidase A
GM2 ganglioside
(+) neurodegeneration
(+) cherry red spot
(+) hepatosplenomegaly
Niemann Pick Disease
Niemann Pick Disease deficient enzyme
Shingomyelinase
Sphingomyelin
(+) hepatosplenomegaly
(+) pancytopenia
(+) avascular necrosis
(+) Gaucher cells - lipid laden macrophages resembling crumpled tissue paper)
Gaucher disease
Gaucher disease deficient enzyme
Glucocerebrosidase (B-glucosidase)
Glucocerebroside
(+) episodic peripheral neuropathy
(+) angiokeratomas
(+) hypohidrosis
Fabry Disease
Fabry Disease deficient enzyme
a galactosidase A
Ceramide trihexoside
(+) central and peripheral demyelination
(+) ataxia
(+) dementia
Metachoromatic leukodystrophy
Metachoromatic leukodystrophy deficient enzyme
Arylsulfatase A
Cerebroside sulfate
(+) peripheral neuropathy
(+) destruction of oligodendrocytes
Krabbe Disease
Krabbe Disease deficient enzyme
Galactocerebrosidase (galactosylceramidase)
Galactocerebroside, Psychosine
