Table 1.
Classification of mucopolysaccharide diseases
| Syndrome (OMIM ref) | Eponym | Enzyme deficiency | Stored material |
|---|---|---|---|
| MPS I H #607014 |
Hurler syndrome | Alpha-l-iduronidase | Dermatan sulphate Heparan sulphate |
| MPS I S #607015 |
Scheie syndrome | Alpha-l-iduronidase | Dermatan sulphate Heparan sulphate |
| MPS II A +309900 |
Hunter syndrome (severe) | Iduronate sulfatase | Dermatan sulphate Heparan sulphate |
| MPS II B +309900 |
Hunter syndrome (mild) | Iduronate sulfatase | Dermatan sulphate Heparan sulphate |
| MPS III A #252900 |
Sanfillipo syndrome A | Sulfamidase | Heparan sulphate |
| MPS III B #252920 |
Sanfillipo syndrome B | N-acetyl-alpha-glucosaminidase | Heparan sulphate |
| MPS III C #252930 |
Sanfillipo syndrome C | N-acetyl-transferase | Heparan sulphate |
| MPS III D #252940 |
Sanfillipo syndrome D | N-acetylglucosamine-6-sulfatase | Heparan sulphate |
| MPS IV A #253000 |
Morquio syndrome A | n-acetyl-galactosamine-6-sulfatase | Keratan sulphate |
| MPS IV B #253010 |
Morquio syndrome B | Beta-galactosidase | Keratan sulphate |
| MPS VI A #253200 |
Maroteaux–Lamy syndrome A | Arylsulfatase B | Dermatan sulphate |
| MPS VI B #253200 |
Maroteaux–Lamy syndrome B | Arylsulfatase B | Dermatan sulphate |
| MPS VII #253220 |
Sly syndrome | Beta-glucuronidase | Dermatan sulphate Heparan sulphate Chondroitin sulphate |
| MPS IX #601492 |
No eponym | Hyaluronidase | |
| MSD #272200 |
Multisulphatase deficiency | Multiple sulphatase deficiencies | Numerous materials including: sulfatides, glycosaminoglycans, sphingolipids, steroid sulphates |