|
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)
| | | | |
