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