Table 1 The different types of mucopolysaccharidoses (MPS) with eponyms, enzymes, genes, loci, and glycosaminoglycans (GAGs) involved
MPS type | Subtype and eponyms | Deficient enzyme | Gene (locus) | GAGS involved |
|---|---|---|---|---|
MPS I | Hurler (H) | α-l-iduronidase | IDUA (4p16.3) | Dermatan, heparan sulfate |
Hurler/Scheie (H/S) | ||||
Scheie (S) | ||||
MPS II | Hunter A | Iduronate sulfatase | IDS (Xq28) | Dermatan, heparan sulfate |
Hunter B | ||||
MPS III | Sanfilippo A | Heparan-N-sulfatase | SGSH (17q25.3) | Heparan sulfate |
Sanfilippo B | α-N-acetylglucosaminidase | NAGLU (17q21) | ||
Sanfilippo C | Heparan acetyl-CoA:α-glucosaminide N-acetyltransferase | HGSNAT (8p11.1) | ||
Sanfilippo D | N-acetylglucosamine 6-sulfatase | GNS (12q14) | ||
MPS IV | Morquio A | Galactose 6-sulfatase | GALNS (16q24.3) | Keratan, chondroitin sulfate |
Morquio B | β-galactosidase | GLB1 (3p21.33) | Keratan sulfate | |
MPS VI | Maroteaux-Lamy | Arylsulfatase B | ARSB (5q11-q13) | Dermatan sulfate |
MPS VII | Sly | β-glucuronidase | GUS (7q21.11) | Dermatan, keratin, chondroitin sulfate |
MPS IX | Â | Hyaluronidase 1 | HYAL (3p21.3) | Hyaluronan |