Enzyme deficiencies, storage material, and clinical manifestations of the different MPS types
| Type . | Eponym . | Enzyme deficiency . | Deposited GAGs (secondary) . | Clinical manifestations before HCT . |
|---|---|---|---|---|
| I | Hurler* Hurler/Scheie Scheie | α‐L‐iduronidase | DS HS (KS) | Coarse facies, short stature, dysostosis multiplex, joint stiffness, spinal cord compression, organomegaly, corneal clouding, retinal degeneration, hearing loss, cardiac/respiratory disease, mental retardation in severe phenotype |
| II | Hunter | Iduronate‐2‐sulfatase | DS HS (KS) | Coarse facies, short stature, dysostosis multiplex, joint stiffness, spinal cord compression, organomegaly, corneal clouding, retinal degeneration, cardiac/respiratory disease, mental retardation |
| III-A | Sanfilippo A | Heparan N‐sulfatase | HS (KS) | Severe mental impairment, aggressive behavior, sleep disturbances and dementia, relatively mild somatic symptoms, corneal clouding, respiratory disease, hearing loss |
| III-B | Sanfilippo B | α-N-acetylglucosaminidase | ||
| III-C | Sanfilippo C | Acetyl‐coa-α‐glucosaminide Acetyltransferase | ||
| III-D | Sanfilippo D | N‐acetylglucosamine 6‐sulfatase | ||
| IV-A | Morquio type A | Galactosamine‐6‐sulfatase | KS C6S | Short stature, ligamentous laxity, joint hypermobility, dysostosis multiplex, corneal clouding, hearing loss, cardiac disease |
| IV-B | Morquio type B | β‐Galactosidase | KS | |
| VI | Maroteaux-Lamy | N‐acetylgalactosamine 4‐sulfatase | DS C4S (KS) | Coarse facies, short stature, dysostosis multiplex, joint stiffness, odontoid hypoplasia, kyphoscoliosis, genu valgum, organomegaly, corneal clouding and cardiac/respiratory disease; no mental impairment |
| VII | Sly | β‐glucuronidase | HS | Coarse facies, short stature, dysostosis multiplex, joint stiffness, spinal cord compression, odontoid hypoplasia, organomegaly, cardiac disease, corneal clouding and mild mental impairment |
| DS | ||||
| C4S | ||||
| C6S | ||||
| (KS) | ||||
| IX | Natowicz | Hyaluronidase | HA | Short stature, polyarthropathy, periarticular soft tissue masses with painful swelling and acetabular erosion |
| Type . | Eponym . | Enzyme deficiency . | Deposited GAGs (secondary) . | Clinical manifestations before HCT . |
|---|---|---|---|---|
| I | Hurler* Hurler/Scheie Scheie | α‐L‐iduronidase | DS HS (KS) | Coarse facies, short stature, dysostosis multiplex, joint stiffness, spinal cord compression, organomegaly, corneal clouding, retinal degeneration, hearing loss, cardiac/respiratory disease, mental retardation in severe phenotype |
| II | Hunter | Iduronate‐2‐sulfatase | DS HS (KS) | Coarse facies, short stature, dysostosis multiplex, joint stiffness, spinal cord compression, organomegaly, corneal clouding, retinal degeneration, cardiac/respiratory disease, mental retardation |
| III-A | Sanfilippo A | Heparan N‐sulfatase | HS (KS) | Severe mental impairment, aggressive behavior, sleep disturbances and dementia, relatively mild somatic symptoms, corneal clouding, respiratory disease, hearing loss |
| III-B | Sanfilippo B | α-N-acetylglucosaminidase | ||
| III-C | Sanfilippo C | Acetyl‐coa-α‐glucosaminide Acetyltransferase | ||
| III-D | Sanfilippo D | N‐acetylglucosamine 6‐sulfatase | ||
| IV-A | Morquio type A | Galactosamine‐6‐sulfatase | KS C6S | Short stature, ligamentous laxity, joint hypermobility, dysostosis multiplex, corneal clouding, hearing loss, cardiac disease |
| IV-B | Morquio type B | β‐Galactosidase | KS | |
| VI | Maroteaux-Lamy | N‐acetylgalactosamine 4‐sulfatase | DS C4S (KS) | Coarse facies, short stature, dysostosis multiplex, joint stiffness, odontoid hypoplasia, kyphoscoliosis, genu valgum, organomegaly, corneal clouding and cardiac/respiratory disease; no mental impairment |
| VII | Sly | β‐glucuronidase | HS | Coarse facies, short stature, dysostosis multiplex, joint stiffness, spinal cord compression, odontoid hypoplasia, organomegaly, cardiac disease, corneal clouding and mild mental impairment |
| DS | ||||
| C4S | ||||
| C6S | ||||
| (KS) | ||||
| IX | Natowicz | Hyaluronidase | HA | Short stature, polyarthropathy, periarticular soft tissue masses with painful swelling and acetabular erosion |
Within MPS-1, there is a phenotype spectrum ranging from the severe Hurler phenotype to the mild Scheie phenotype.