Mucopolysaccharidoses (MPS)

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)

Back to Lysosomal Storage Disorders Index

Back to Alphabetical List of Assays Available