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Table 1 Classification and major characteristics of the mucopolysaccharidoses (MPS)

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
  1. MPS V and VIII are designations no longer used
  2. CS chondroitin sulphate, DS dermatan sulphate, GAG glycosaminoglycan, HS heparan sulphate, KS Keratan sulphate