Table 1.

Classification of LSDs and some examples of the diseases in each group.

LSD group	Disease	OMIM	Defective Protein	Lysosomal alteration
Sphingolipidoses	Gaucher	230800 230900 231000	β-Glucosidase	Lysosomal hydrolase
	GM1 Gangliosidoses	230500 230600 230650	β-galactosidase	Lysosomal hydrolase
	Variant AB of GM2 Gangliosidoses	272750	GM2 activator protein	Activator protein
	Sandhoff disease	268800	β-hexosaminidases A and B	Lysosomal hydrolase
	Tay–Sachs disease	272800	beta-hexosaminidase A	Lysosomal hydrolase
	Fabry's disease	301500	α-galactosidase	Lysosomal hydrolase
	Krabbe disease	245200	Galactosylceramidase	Lysosomal hydrolase
	Metachromatic leukodystrophy	250100	Arylsulfatase A	Lysosomal hydrolase
Mucopolysaccharidoses	Hurler syndrome (MPS I)	607014	α-L-iduronidase	Lysosomal hydrolase
	Hunter syndrome (MPS II)	309900	iduronate-2-sulfatase	Lysosomal hydrolase
	Sanfilippo syndrome (MPS III)	252900 252920 252930 252940	Heparan N-sulfatase α -N-acetylglucosaminidase Acetyl-CoA:alpha-glucosaminide N-acetyltransferase N-acetylglucosamine-6-sulfatas	Lysosomal hydrolase/transferase
	Morquio syndrome (MPS IV)	253000	N-acetylgalactosamine-6-sulfatase β-galactosidase	Lysosomal hydrolase
	Maroteaux Lammy (MPS VI)	253200	Arylsulfatase B	Lysosomal hydrolase
	Sly syndrome	253220	β-glucuronidase	Lysosomal hydrolase
Oligosaccharidosis	α-Mannosidosis	248500	α-Mannosidase	Lysosomal hydrolase
Mucolipidoses (ML)	ML type I	256550	Sialidase	Lysosomal hydrolase
	ML types II/III	252500 252600	N-acetylglucosamine-1-fosforyltransferase	Lysosomal hydrolases trafficking
	ML type IV	252650	Mucopilin 1	Membrane protein
Lysosomal membrane proteins	Danon disease	300257	LAMP2	Membrane protein
	Cystinosis	219750	Cystinosine	Membrane transporter
Other	Pompe	232300	α-glucosidase	Lysosomal hydrolase
	Multiple sulfatase deficiency	272200	Formylglycine generating enzyme	Posttranslational modification of lysosomal hydrolases