Table 2.

Secondary Ganglioside Accumulation in Patients with LSDs.

Disease	Protein	Gene	Major Storage Compound 1	Accumulated Ganglioside	References
Sphingolipidoses
Niemann–Pick disease type A, B	ASM	SMPD1	SM1	GM2, GM3	[3,32,90]
Niemann–Pick disease type C	NPC1	NPC1	Chol 2	GM2, GM3, GM1	[4,32,179]
	NPC2	NPC2	Chol 2	GM2, GM3	[4,95,179]
Gaucher disease	β-glucosidase	GBA1	GlcCer 3	GM2, GM3, GM1, GD3	[112,180]
Metachromatic leukodystrophy	Arylsulfatase A	ARSA	Sulfatide	GM2	[120]
Krabbe disease	galactocerebrosidase	GALC	GalCer 4	GD2, GD3, GM3	[115]
Farber disease	acid ceramidase	ASAH1	ceramide	Gangliosides	[123,124]
Mucopolysaccharidoses (MPS)
MPS Ι (Hurler syndrome)	α-L iduronidase	IDUA	heparan sulfate, dermatan sulfate	GM2, GM3	[32,128,133,142]
MPS ΙΙ (Hunter syndrome)	iduronate-2-sulfatase	IDS	heparan sulfate, dermatan sulfate	GM2, GM3	[133]
MPS ΙΙΙA (Sanfilippo syndrome)	Heparin-N-sulfatase	SGSH	heparan sulfate	GM2, GM3, GD2	[133,142]
MPS ΙΙΙB (Sanfilippo syndrome)	α-N-Acetylglucosaminidase	NAGLU	heparan sulfate	GM2, GM3, GD2	[128]
MPS ΙΙΙC (Sanfilippo syndrome)	Acetyl-CoA: α-N-glucosaminide N-acetyltransferase	HGSNAT	heparan sulfate	GM2, GM3, GD2
MPS ΙΙΙD (Sanfilippo syndrome)	N-Acetylglucosamine-6-sulfatase	GNS	heparan sulfate	GM3, GM2, GD2	[136]
MPS VΙ (Maroteaux–Lamy syndrome)	arylsulfatase B	ASRB	dermatan sulfate	GM2, GM3	[140]
MPS VΙΙ (Sly syndrome)	β-glucuronidase	GUSB	heparan sulfate, dermatan sulfate, chondroitin sulfate	GM2, GM3	[5,142]
Mucolipidoses
Mucolipidosis ΙΙ (I-cell disease) Mucolipidosis ΙΙΙ (pseudo-Hurler polydystrophy)	N-acetylglucosamine-1-phosphotransferase	GNPTAB		GM1	[143,181]
Mucolipidosis ΙV (mucolipidin 1 deficiency)	TRPML1	MCOLN1		GM3, GD1a	[147]
Glycoproteinoses
Galactosialidosis	lysosomal protective protein–cathepsin A (PPCA)	CTSA	sialyloligosacchaides	GM2, GM3, GM1, GD1a	[149]
α-Mannosidosis	α-D-mannosidase	MAN2B1	mannose-rich oligosaccharides	GM2, GM3	[32,152]
Sialidosis	acid neuraminidase 1	NEU1	sialyloligosaccharides, sialoglycoproteins	GM3, GD3, GM4, LM1	[151]
Neuronal ceroid lipofuscinoses (NCL)
NCL 3 (Batten disease)	CLN3	CLN3	ATPase subunit c, lipofuscin	GM3	[159]
NCL 6	CLN 6	NCLF	ATPase subunit c, lipofuscin	GM2, GM3	[156]
NCL 10 (Congenital cathepsin D deficiency)	Cathapsin D	CTSD	ATPase subunit c, Sap A, Sap D, lipofuscin	GM2, GM3	[156]
Hereditary spastic paraplegia (HSP)
HSP type SPG 11	spatacsin	SPG11	p62	GM2, GM3, GD2, GD3	[171]
Alzheimer
TgCRND8 (Alzheimer maus)			Aβ40, Aβ42	GM1, GD1a, GD1b, GM2, GM3	[178]

¹ SM, sphingomyelin; ² Chol, cholesterol; ³ GlcCer, glycosylceramide; ⁴ GalCer, galactosylceramide.