Table 1.
Classification of mucopolysaccharidoses (MPSs) with types, syndromes’ names, phenotype Mendelian Inheritance in Man (MIM) number (#), deficient enzymes with their Enzyme Commission (E.C.) classification, gene symbol, affected glycosaminoglycans (GAGs) (DS = dermatan sulfate, HS = heparan sulfate, KS = keratan sulfate, CS = chondroitin sulfate) inheritance (AR= autosomal recessive; XL = X-linked), names of recombinant enzymes and their commercial name. Data obtained from Online Mendelian Inheritance in Man® (OMIM®) https://www.ncbi.nlm.nih.gov/omim. Accessed on 7 April 2020.
| Type | Syndrome | Phenotype MIM Number (#) |
Deficient Enzyme (EC Classification) |
Gene Symbol | Affected GAGs | Inheritance | Recombinant Enzyme | Brand Name |
|---|---|---|---|---|---|---|---|---|
| MPSIH H/S S |
Hurler Hurler/Scheie Scheie |
607014- 607015- 607016 |
Alpha-L-iduronidase (3.2.1.76) |
IDUA | DS,HS | AR | Laronidase | Aldurazyme® |
| MPSII | Hunter | 309900 | Iduronate 2-Sulfatase (3.1.6.13) |
IDS | DS,HS | XL | Idursulfase alfa Idursulfase beta |
Elaprase® Hunterase® |
| MPSIVA | Morquio A | 253000 | Galactosamine-6-sulfatase (3.1.6.4) |
GALNS | KS,CS | AR | Elosulfase | Vimizim® |
| MPSVI | Maroteax-Lamy | 253200 | Arylsulfatase B (3.1.6.12) |
ARSB | DS | AR | Galsulfase | Naglazyme® |
| MPSVII | Sly | 253220 | Beta-glucuronidase (3.2.1.31) |
GUSB | DS,HS,CS | AR | Vestronidase | Mepsevii® |