Table 1. Glycosphingolipid storage disorders and accumulating lyso-GSL species.
Lysosomal storage disorder | Accumulating lyso-GSL and aliases |
---|---|
Gaucher disease | Glucosylsphingosine (GlcSph), lyso-glucosylceramide (LGL1), Globotriaosylsphingosine (lyso-GB3, lyso-CTH) |
Fabry disease | Globotriaosylsphingosine (lyso-GB3, lyso-CTH) |
Krabbe disease/globoid cell leukodystrophy/ galactosylceramide lipidosis | Galactosylsphingosine (GalSph, lyso-GalCer, psychosine) |
Niemann Pick type C | Glucosylsphingosine (GlcSph, lyso-GlcCer, lyso-GL1) (Phosphorylcholinesphingosine (lyso-S(P)M)) |
GM1 gangliosidosis GM2 gangliosidosis (Tay Sachs, Sandhoff Disease) |
Lyso-monosialoganglioside GM1 (lyso-GM1), lyso-GA1 Lyso-monosialoganglioside GM2 (lyso-GM2), lyso-GA2 |
Metachromatic leukodystrophy (MLD) | Sulfogalactosylsphingosine (lyso-sulfatide) |