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. 2020 Aug 18;64(3):565–578. doi: 10.1042/EBC20190090

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)