Table 1Lysosomal storage disorders

Chromosomal Protein Defect LocalizationDiseaseOMIM
DEFECTS IN GLYCAN DEGRADATION
Defects in glycoprotein degradation
α-SialidaseSialidosis608272 6p21.3
GalactosialidosisCathepsin A256540 20q13.1
α-Mannosidaseα-Mannosidosis248500 19q12
β-Mannosidaseβ-Mannosidosis248510 4q22
GlycosylasparaginaseAspartylglucosaminuria208400 4q32
α-FucosidaseFucosidosis230000 1q34
α-N-AcetylglucosaminidaseSchindler104170 22q13.1
Defects in glycolipid degradation
A. GM1 Ganglioside
β-GalactosidaseGM1 gangliosidosis / MPS IVB230500 3p21.33
β-Hexosaminidase α-subunitGM2-gangliosidosis (Tay-Sachs)606869 15q23
β-Hexosaminidase β-subunitGM2-gangliosidosis (Sandhoff)606873 5q13
GM2 activator proteinGM2 gangliosidosis272750 5q31
GlucocerebrosidaseGaucher disease606463 1q21
Saposin CGaucher disease176801 10q22.1
B. Defects in the degradation of sulfatide
Arylsulfatase AMetachromatic leukodystrophy607574 2q13.31
Saposin BMetachromatic leukodystrophy176801 10q22.1
Formyl-Glycin generating enzymeMultiple sulfatase deficiency607939 3p26
β-Galactosylceramidase (Krabbe)Globoid cell leukodystrophy606890 14q.31
C. Defects in degradation of globotriaosylceramide
α-Galactosidase AFabry301500 Xq22.1
Defects in degradation of Glycosaminoglycan (Mucopolysaccharidoses)
A. Degradation of heparan sulphate
Iduronate sulfataseMPS II (Hunter)309900 Xq28
α-IduronidaseMPS 1 (Hurler, Scheie)607015 4p16.3
Heparan N-sulfataseMPS IIIa (Sanfilippo A)252900 17q25.3
Acetyl-CoA transferaseMPS IIIc (Sanfilippo C)252930 14
N-acetyl glucosaminidaseMPS IIIb (Sanfilippo B)252910 17q21
β-glucuronidaseMPS VII (Sly)253220 7q21.11
N-acetyl glucosamine 6-sulfataseMPS IIId (Sanfilippo D)252940 12q14
Degradation of other mucopolysaccharides
N-Acetylgalactosamine 4-sulfataseMPS VI253200 5q11-13
Galactose 6-sulfataseMPS IVA (Morquio A)253000 16q24.3
HyaluronidaseMPS IX601492 3p21.3
Defects in degradation of glycogen
α-GlucosidasePompe232300 17q25
DEFECTS IN LIPID DEGRADATION
Defects in degradation of sphingomyelin
Acid sphingomyelinaseNiemann Pick type A and B607808 11p15.2
Acid ceramidaseFarber lipogranulomatosis228000 8q22
Defects in degradation of triglycerides and cholesteryls ester
Acid lipaseWolman and cholesteryl ester storage disease278000 10q23.2
DEFECTS IN PROTEIN DEGRADATION
Cathepsin KPycnodystostosis601105 1q26
Tripeptidyl peptidaseCeroide lipofuscinosis 2607998 11q15.5
Palmitoyl-protein thioesteraseCeroide lipofuscinosis 1600722 1p32
DEFECTS IN LYSOSOMAL TRANSPORTERS
Cystinosin (cystin transport)Cystinosis606272 17p13
Sialin (sialic acid transport)Salla disease604322 6q14
DEFECTS IN LYSOSOMAL TRAFFICKING PROTEINS
UDP-N-acetylglucosamine
Phosphotransferase γ-subunitMucolipidosis III (I-cell)607838 16
Mucolipin-1(cation channel)Mucolipidosis IV605248 19p13
LAMP-2Danon309060 Xq24
NPC1Niemann Pick type C607623 11q11-12
CLN3Ceroid lipofuscinosis607072 16p12.1
CLN 6Ceroid lipofuscinosis 6606725 15q21-23
CLN 8Ceroid lipofuscinosis 8607837 8pter-p22
LYSTChediak-Higashi606897 1q42
MYOVGriscelli Type 1160777 15q21
RAB27AGriscelli Type 2603868 15q21
MelanophilinGriscelli Type 3606526 2q37
AP3 β-subunitHermansky Pudliak 2603401 5q14.1

From: Lysosomal Storage Disorders

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