Sphingolipid Disorders

Sphingolipid Disorders
by:Eric Niederhoffer
SIU-SOM

Sphingolipids (phospho- or glycolipids)

General Structure
Gangliosidoses
Generalized gangliosidosis
Tay-Sachs disease
Niemann-Pick disease
Metachromatic leukodystrophy
Krabbe’s disease
Gaucher’s disease
b-galactosidase
b-hexosaminidase A
GM2 activator
neuraminidase
(sialidase)
SAP-B
b-galactosidase
SAP-B, SAP-C
b-glucosylceramidase
SAP-C
b-hexosaminidase A&B
a-galactosidase A
SAP-B
sphingomyelinase
arylsulfatase A
SAP-B
b-galactosylceramidase
SAP-A, SAP-C
Cerezyme
Targeting of Lysosomal Enzymes to Lysosomes
Addition of M6P to lysosomal enzymes
Recognition by MPRs
M6P independent pathways

Review Questions

* How do you interpret ganglioside names (G, D, M, 1, 2, 3)?
* What do the different lysosomal enzyme names mean in the context of removing saccharides?
* Where does ganglioside degradation occur?

Sphingolipid Disorders