Type | Common name | Major symptoms | Deficient enzyme | GAGs | Enzyme replacement therapy |
---|---|---|---|---|---|
MPS IH | Hurler syndrome | Progressive involvement of the heart (cardiomyopathy cardiac valve and coronary infiltration), skeleton, and airways. Frequent obstructive sleep apnea. Possible cervical spine involvement. Progressive intellectual disability | α-l-iduronidase | Heparan sulfate Dermatan sulfate | Aldurazyme |
MPS IHS | Hurler-Scheie syndrome | Intermediate severity, onset in early childhood with mild to cognitive impairment | |||
MPS IS | Scheie syndrome | Least severe, onset in childhood with no cognitive impairment | |||
MPS II | Hunter syndrome | Wide range (mild to severe forms). In severe forms progression similar to MPS IH. Cardiac valve and coronary infiltration cardiomyopathy. Frequent obstructive sleep apnea. Intellectual disability may be absent in mild form | Iduronate sulfate sulfatase | Heparan sulfate Dermatan sulfate | Elaprase |
MPS IIIA | Sanfilippo syndrome A | Developmental delay, severe hyperactivity, behavioral problems. Somatic manifestations are generally less severe than other MPS | Heparan-S-sulfaminidase | Heparan sulfate | Not available |
MPS IIIB | Sanfilippo syndrome B | Symptoms and disease progression are less severe than IIIA | N-acetyl-α-d-glucosaminidase | ||
MPS IIIC | Sanfilippo syndrome C | Acetyl-Co-A glucosaminidase | |||
MPS IIID | Sanfilippo syndrome D | N-Acetylglucosidase N-acyltransferase | |||
MPS IVA | Morquio syndrome A | Severe skeletal dysplasia usually leading to pulmonary compromise. Hypoplasia of the odontoid process causing atlanto-axial instability and cervical subluxation. Aortic valve involvement common. Usually intellectually normal | Galactosamine-6-sulfate sulfatase | Keratan sulfate Chondroitin 6-sulfate | Elosulfase alfa |
MPS IVB | Morquio syndrome B | Milder than MPS IVA | |||
MPS VI | Maroteaux–Lamy syndrome | Severe skeletal dysplasia, spinal cord compression from GAGs. Progressive cardiac valve degeneration with stenosis and/or incompetence | N-acetyl-galactosamine α-4-sulfate sulfatase | Dermatan sulfate | Galsulfase, Naglazyme |
MPS VII | Sly syndrome | Highly variable developmental delay and progressive intellectual disability may be present | β-glucuronidase | Dermatan sulfate, heparan sulfate, chondroitin sulfate | recombinant human β-glucuronidase |
MPS IX | Periarticular soft tissue masses, mild short stature, and acetabular erosions without classical MPS features It is very rare | Hyaluronidase 1 | Hyaluronan |