Assays / Genetic Enzymes / 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