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8 Cards in this Set

  • Front
  • Back
Fabry's disease
* alpha-galactosidase A

+ Ceramide trihexoside

(unique b/c this is one of two lysosomal storage diseases that is X-Linked Recessive)
Gaucher's disease
*Beta-glucocerebrosidase

+Glucocerebroside
Niemann-Pick disease
* Sphingomyelinase

+ Sphingomyelin
Tay-Sachs disease
* Hexosaminidase A

+ GM2 ganglioside
Krabbe's disease
* Galactocerebrosidase

+ Galactocerebroside
Metachromatic leukodystrophy
* Arylsulfatase A

+ Cerebroside sulfate
Hurler's syndrome
* alpha-L-iduronidase

+ Heparan sulfate and dermatan sulfate
Hunter's syndrome
+ iduronate sulfatase

+ Heparan sulfate and dermatan sulfate

(unique b/c this is one of two lysosomal storage diseases that is X-Linked Recessive)