Table 1 Summary of epidemiological, pathophysiological and clinical features characterising different types of MPS
From: Imaging findings of mucopolysaccharidoses: a pictorial review
Type | Name of syndrome | Incidence | Deficient enzyme | Accumulated products | Main symptoms |
|---|---|---|---|---|---|
I | Hurler (I H) | 1/100.000 | Alpha-L-iduronidase | HS | Corneal clouding; dysostosis multiplex; organomegaly; heart disease; mental retardation; death in childhood |
DS | Corneal clouding; stiff joints; normal intelligence and life span | ||||
Scheie (I S) | Intermediate phenotype, between MPS IH and MPS IS | ||||
Hurler-Scheie (I H-S) | |||||
II | Hunter | 1/250.000 | Iduronate sulphatase | HS | Dysostosis multiplex; organomegaly; short stature; death before 15 years (severe);survival to 20s to 60s (mild) |
DS | |||||
III | Sanfilippo A | 1/150.000 | Heparan sulphamidase | HS | Relatively mild somaticmanifestations; hyperactivity; profound mental deterioration |
Sanfilippo B | N-acetyl-glucosaminidase | ||||
Sanfilippo C | Acetyl-CoA: alpha-glucusaminide acetyltranferase | ||||
Sanfilippo D | N-acetylglucosamine 6-sulphatase | ||||
IV | Morquio A | 1/75.000 | Galactose-6-sulphate sulphatase | KS | Dysostosis multiplex; short stature; motor dysfunction |
Morquio B | CH | ||||
Beta-galactosidase | KS | ||||
V | This designation is no longer used; the phenotype, which was first classified as MPS V, was found to be MPS I S | ||||
VI | Maroteaux-Lamy | <1/250.000 | N-acetylgalactosamine-4-sulphatase | DS | Dysostosis multiplex; short stature; motor dysfunction; kyphosis; heart defects; survival to teens in severe form |
VII | Sly | <1/250.000 | Beta-glucuronidase | HS | Hepatomegaly; dysostosis multiplex; short stature; corneal clouding; developmental delay; wide spectrum of severity including fetal hydrops and neonatal form |
DS | |||||
CH | |||||