Generalized Gangliosidosis (defective enzyme)
beta-galactosidase
Generalized Gangliosidosis (substrate)
Ganglioside GM1
Generalized Gangliosidosis (symptoms)
intellectual disability, liver enlargement, skeletal involvement
Tay-Sachs disease (defective enzyme)
beta-Hexosaminidase A
Tay-Sachs disease (substrate)
Ganglioside GM2 (in brain and liver)
Tay-Sachs disease (symptoms)
Progressive neurodegeneration, cherry red spot on macula, developmental delay, exaggerated startle response to loud noises, intellectual disability, death bt 2-3 y/o
Sandhoff-Jatzkewitz Disease (defective enzyme)
BOTH beta-hexoaminadase A and B
Sandhoff-Jatzkewitz Disease (substrate)
Ganglioside GM2 and globiosides (in brain and liver)
Sandhoff-Jatzkewitz Disease (Sx)
Sim to Tay Sachs but more rapid
Fabry disease (defective enzyme)
alpha-galactosidase
Fabry disease (substrate)
ceramide trihexoside
Fabry disease (Sx)
Skin rash (angiokeratomas), cardiovascular/renal disease, pain in extremities
Gaucher disease (defective enzyme)
beta-glucocerebrosidase
Gaucher disease (substrate)
Glucocerebroside
Gaucher disease (sx)
Liver, spleen enlargement, erosion of long bones and pelvis, mental retardation in infantss
Niemann-Pick disease (deficient enzyme)
Sphingomyelinase
Niemann-Pick disease (substrate)
Sphingomyelin
Niemann-Pick disease (sx)
Progressive neurodegeneration, liver AND spleen enlargement, intellectual disability, cherry red spot on macula
Metachromatic leukodystrophy (defective enzyme)
Arylsulfatase A
Metachromatic leukodystrophy (substrate)
Cerebroside sulfate
Metachromatic leukodystrophy (sx)
Intellectual disability, nerves stained yellow-brown with violet dye, dementia, cnetral and peripheral demyelination with ataxia
Krabbe disease (substrate)
galactocerebroside
Krabbe disease (defective enzyme)
Galactocerebrosidase
Krabbe disease (sx)
peripheral neuropathy, developmental delay, optic atrophy, absence of myelin