| Disorder | Enzyme or Test |
| Screen for all MPS | Glycosaminoglycans |
| Hurler disease* and Scheie disease*(MPSI) | a-iduronidase |
| Hunter disease* (MPS II) | Iduronate sulphatase |
| Sanfilippo disease type A* (MPS IIIA) | Heparan sulphamidase |
| Sanfilippo disease type B* (MPS IIIB) | a-N-acetylglucosaminidase |
| Sanfilippo disease type C* (MPS IIIC) | Glucosamine N-acetyltransferase |
| Morquio disease type A* (MPS IVA) | N-acetylgalactosamine 6-sulphatase |
| Morquio disease type B* (MPS IVB) | b-galactosidase |
| Maroteaux-Lamy disease* (MPS VI) | Arylsulphatase B |
| Sly disease* (MPS VII) | b-glucuronidase |
| Multiple sulphatase deficiency | Arylsulphatase A and other sulphatases |
(* = prenatal diagnosis available)