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Table 1 Overview of the mucopolysaccharidoses (MPS)

From: Assessment of musculoskeletal abnormalities in children with mucopolysaccharidoses using pGALS

MPS Type Main clinical features Enzyme deficient Substrate accumulated
Skeletal disease, soft tissue storage and a range of central nervous system disease
I-H Hurler Developmental delay, coarse facial features, dysostosis multiplex, hepatosplenomegaly, death by age 10 years Alpha-L-iduronidase Heparan sulfate
I-HS Hurler-Scheie Micrognathia, toe walking, moderate coarse facies, possible normal intelligence, death by 20s (phenotype intermediate between I-H and I-HS)   Dermatan sulfate
I-S Scheie Aortic valve disease, joint disease, corneal clouding, normal facies, survive into adulthood
II Hunter Severe: Disease course similar to MPS I-H, but clear corneas, aggressive behaviour and developmental delay Iduronate sulfatase Heparan sulfate
Mild: Normal or near-normal intelligence, less pronounced physical features Dermatan sulfate
MPS VII Sly Variable intermediate presentation similar to MPS I, from fetal hydrops to mild dysmorphism; dense inclusions in granulocytes Beta-glucuronidase Heparan sulfate
Dermatan sulfate
MPS VI Maroteaux-Lamy Similar to MPS I without CNS disease, pachymeningitis cervicalis, death in teens and 20s; Hurler phenotype with marked corneal clouding; mild, moderate and severe expression in different families N-acetylgalactosamine-4-sulfatase (arylsulfatase B) Dermatan sulfate
Skeletal, cartilage and ligament disease primarily
MPS IVA Morquio A Skeletal disease (bone dysplasia) with short stature, ligamentous laxity, corneal opacities, final height <125 cm N-acetylgalactosamine-6-sulfatase Keratan sulfate
MPS IVB Morquio B Same as IV-A but milder; adult height >120 cm Beta-galactosidase
MPS IX Natowicz syndrome Periarticular masses, nodular synovium, popliteal cyst, large joint effusion Hyaluronidase 1 Hyaluronan
MPS IIIA Sanfilippo A Behavioural problems, sleeping disorder, aggression, progressive dementia, mild dysmorphism, coarse hair, clear corneas, survival to adulthood possible Sulfamidase Heparan sulfate
MPS IIIB Sanfilippo B Alpha-N-acteylglucosaminidase
MPS IIIC Sanfilippo C GAC-acteylase
MPS IIID Sanfilippo D N-acetylglucosamine-6-sulfatase