Glycosidases: inborn errors of glycosphingolipid catabolism.

[gm1 gangliosidosis]

Glycosphingolipids (GSLs ) are information-rich glycoconjugates that occur in nature mainly as constituents of biomembranes . Each GSL contains a complex carbohydrate chain linked to a ceramide moiety that anchors the molecule to biomembranes . In higher animals , catabolism of GSLs takes place in lysosomes where sugar chains in GSLs are hydrolyzed by exo-glycosidases to cleave a sugar residue from the non-reducing end of a sugar chain . Inborn errors of GSL-catabolism , collectively called sphingolipidoses or GSL-storage diseases , are caused by the deficiency of exo-glycosidases responsible for the degradation of the specific sugar residues at the non-reducing termini in GSLs . This chapter briefly discusses glycone , anomeric , linkage , and aglycone specificities of exo-glycosidases and some of the historical landmarks on their associations with the chemical pathology of the five best known sphingolipidoses : GM 1 gangliosidosis , GM 2 gangliosidosis (Tay-Sachs disease ), Fabry disease , Gaucher disease , and Krabbe disease .

Diseases
Validation

Diseases presenting "the deficiency of exo-glycosidases responsible for the degradation of the specific sugar residues at the non-reducing termini in gsls" symptom

fabry disease

gm1 gangliosidosis

krabbe disease

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