From: Biochemical and molecular analysis in mucopolysaccharidoses: what a paediatrician must know
Type | Syndrome | OMIM # | Enzyme defect | Affected GAG |
---|---|---|---|---|
MPS IH | Hurler | 607014 | α-l-iduronidase | DS, HS |
MPS IS | Scheie | 607,015 | ||
MPS IH/S | Hurler-Scheie | 607016 | ||
MPS II | Hunter (severe) | 309900 | Iduronate 2-sulfatase | DS, HS |
Hunter (attenuated) | ||||
MPS IIIA | Sanfilippo A | 252900 | Heparan N-sulfatase | HS |
MPS IIIB | Sanfilippo B | 252920 | α-N-acetyl-d-glucosaminidase | |
MPS IIIC | Sanfilippo C | 252930 | Acetyl CoA:α-glucosaminide-acetyltransferase | |
MPS IIID | Sanfilippo D | 252940 | N-acetylglucosamine-6-sulfatase | |
MPS IVA | Morquio A | 253000 | N-acetylgalactosamine-6-sulfatase | KS, CS |
MPS IVB | Morquio B | 253010 | β-galactosidase | KS |
MPS VI | Maroteaux-Lamy | 253200 | N-acetylgalactosamine-4-sulfphatase (arylsulphatase B) | DS |
MPS VII | Sly | 253220 | β-glucuronidase | DS, HS, CS |
MPS IX | – | 601492 | Hyaluronidase | Hyluronan |