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20 Cards in this Set

  • Front
  • Back
Deficiency of alpha galactosidase A enzyme
Fabry's disease
Fabry's disease accumulates
Ceramide trihexosidase
Deficiency of Beta-glucocerebrosidase enzyme
Gaucher's disease
Gaucher's disease accumulates
Deficiency of Sphingomyelinase enzyme
Niemann-pick disease
Niemann-Pick disease accumulates
Deficiency of Hexoaminidase A enzyme
Tay-Sachs disease
Tay-Sachs disease accumulates
GM2 ganglioside
Deficiency of Beta-galactosidase enzyme
Krabbe's disease
Krabbe's disease accumulates
Deficiency of Arylsulfatase A enzyme
Metachromatic leukodystrophy
Metachromatic leukodystrophy accumulates
Cerebroside sulfate
Deficiency of Alpha-L-iduronidase enzyme
Hurler's syndrome
Hurler's syndrome accumulates
Heparan sulfate, dermatan sulfate
Deficiency of iduronate sulfatase enzyme
Hunter's syndrome
Hunter's syndrome accumulates
Heparan sulfate, dermatan sulfate
Glucose-6-phosphatase deficiency
Von Gierke's disease
Type I
The liver becomes a muscle
Lysosomal alpha-1,4-glucosidase deficiency
Pompe's disease
Type II
Pompe's trashes the pump
debranching enzyme deficiency
Cori's disease
Type III
Deficiency of alpha-1,6-glucosidase
Skeletal muscle glycogen phosphorylase deficiency
McArdle's disease
Type V