Sphingolipidoses Flashcards
Which disease is not autosomal recessive?
Fabry Disease
In what population is Tay-Sachs disease most prevalent?
Ashkenazi Jew
What is the enzyme deficiency + principal storage substance of generalized gangliosidosis? Give a pneumonic if there is one.
Storage substance: Ganglioside Gm1
Enzyme deficiency: Ganglioside Gm1 beta galactosidase (lose Gal)
What is the enzyme deficiency + principal storage substance of Tay-Sach’s? Give a pneumonic if there is one.
Storage substance: Ganglioside Gm2
Enzyme deficiency: Hexosaminidase A (lose GalNAc)
What is the enzyme deficiency + principal storage substance of Sandhoff’s? Give a pneumonic if there is one.
Storage substance: Globoside
Enzyme deficiency: Hexosaminidase A and B (lose GalNAc)
Wow u sure still got alot of sugars to sandhoff - Also S means you lose the same enzyme as tay - Sachs.
What is the enzyme deficiency + principal storage substance of Fabry’s disease? Give a pneumonic if there is one.
Storage substance: Ceramide trihexose (1 glu, 2 gal)
Enzyme deficiency: alpha-galactosidase A (lose Gal)
What is the enzyme deficiency + principal storage substance of Krabbe’s? Give a pneumonic if there is one.
Storage substance: Galactocerebroside (ceramide + lactose disaccharide)
Enzyme deficiency: galactocerebrosidase (lose gal)
damnit Mister Krabbe’s this isn’t a cerebroside there are two sugars
What is the enzyme deficiency + principal storage substance of Gaucher’s disease? Give a pneumonic if there is one.
Storage substance: Glucocerebroside (ceramide + glucose)
Enzyme deficiency: glucocerebrosidase (lose glu, make ceramide)
Gauch that hurt, you finally cut me down to ceramide.
What is the enzyme deficiency + principal storage substance of Niemann-Pick disease? Give a pneumonic if there is one.
Storage substance: Sphingomyelin
Enzyme deficiency: sphingomyelinase (remove phosphocholine, make ceramide)
No man picks his nose with his Sphinger
Niemann-Pick = sphingomyelinase
