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