Tay-Sachs disease:
Enzyme – Hexosaminidase A (“Tay-Sax”)
Accumulated: GM2 ganglioside
Symptoms: progressive neurodegeneration, developmental delay, hypereflexia, cherry red spot, onion
skin
MN: “sachs of onions and cherries in the back of my 2nd GM sierra. I sure hope they don’t
get hexed.”
Fabry disease:
Enzyme – alpha-galactosidase A
Accumulated: Ceramide trihexoside
Symptoms: cardiovascular (heart), renal disease (peeing)
MN: “A Fabulous Alpha-galaxy that breaks the hearts of 3 fragile women by peeing on
them”
Metachromatic leukodystrophy:
Enzyme: Arylsulfatase A
Accumulated: Cerebroside sulfate
Symptoms: ataxia, dementia
MN: “Aryl had many colorful and cerebral brothers, they made her clumsy and crazy.”
Krabbe Disease:
Enzyme: Galactocerebrosidease
Accumulated: galactocerebroside
Symptoms: optic atrophy, globoid cells
MN: “I’m Krabbe because I can’t see the globes of the milky brain.”
Gaucher disease:
Enzyme: Glucocerebrosidease
Accumulated: Glucocerebroside
Symptoms: hepatosplenomegaly, aseptic necrosis of femur, bone crises
MN: “It’s gauche to glue brains into your bones with tissue paper.”
Niemann-Pick disease:
Enzyme: Sphingomyelinase
Accumulated: Sphingomyelin
Symptoms: hepatosplenomegaly, cherry red spot on macula (bloody), foam cells (foaming nose)
MN: “I hope No (hepato) man picks his bloody foaming nose with his sphinger”
Generalized ganglioside:
Enzyme: beta-galactosidase
Accumulated: Ganglioside GM1
Symptoms: intellectual disability, hepatomegaly, skeletal involvement
MN:
Sandhoff-Jatzkewitz:
Enzyme: beta-hexoamindase A and B
Accumulated: ganglioside GM2 and globosides
Symptoms: similar to Tay-Sachs, more rapid