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Table 1 Symptoms frequently observed in MPS I and MPS III patients and information regarding the different phenotypes and enzymatic subtypes

From: Failure to shorten the diagnostic delay in two ultra-orphan diseases (mucopolysaccharidosis types I and III): potential causes and implications

Disease OMIM Enzyme deficiency Storage material Main clinical features Treatment Prevalence
Mucopolysaccharidosis type 1 (MPS I)
MPS I – Hurler (MPS I-H) 607,014 α-L-iduronidase (IDUA) Dermatan sulfate (DS) and heparan sulfate (HS) Progressive neurocognitive decline, hernias, facial dysmorphisms, corneal clouding, stiff joints, dysostosis multiplex, cardiac problems and hepatosplenomegaly. Death in childhood if untreated. HSCT 1.07/1.19 per 100.000 newborns
MPS I – Hurler-Scheie (MPS I-H/S) 607,015    Phenotype intermediate between MPS I-H and MPS I-S. Can present with or without neuronopathic disease. HSCT or ERT  
MPS I – Scheie (MPS I-S) 607,016    Corneal clouding, stiff joints, mild dysostosis multiplex. Normal intelligence en life expectancy. ERT  
Mucopolysaccharidosis type 3 (MPS III)
MPS IIIA 252,900 Heparan N-sulfatase (SGSH) Heparan sulfate (HS) Progressive neurocognitive decline, behavioral problems, sleep disturbances, progressive loss of motor functions. Death in second or third decade of life. Broad spectrum of disease severity. Not available 1.52/1.89 per 100.000 newborns
MPS IIIB 252,920 N-acetyl-α-glucosaminidase (NAGLU)     
MPS IIIC 252,930 Acetyl CoA:α-glucosaminide N-acetyltransferase (HGSNAT)     
MPS IIID 252,940 N-acetylglucosamine 6-sulfatase (GNS)