Syndrom Eponym Enzymdefekt Urinausscheidung
MPS I H M. Hurler Alpha-L-Iduronidase DS/HS
MPS I S M. Scheie    
MPS II A M. Hunter (schwer) Iduronat-Sulfatase DS/HS
MPS II B M. Hunter (leicht) Iduronat-Sulfatase DS/HS
MPS III A M. Sanfilippo A Sulfamidase HS/CS
MPS III B M. Sanfilippo B N-Azetyl-Alpha-Glucosaminidase HS/CS
MPS III C M. Sanfilippo C N-Azetyl-Transferase HS/CS
MPS III D M. Sanfilippo D N-Azetylglucolamin-6-Sulfatase HS/CS
MPS IV A M. Morquio A N-Azetylgalaktosamin-6-Sulfatase KS/CS
MPS IV B M. Morquio B Beta-Galaktosidase KS/CS
MPS VI M. Maroteaux-Lamy Arylsulfatase B DS/HS
MPS VII M. Sly Beta-Glukuronidase CS
MPS IX   Hyaluronidase