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Mucopolysaccharidosis type 1

Disease definition

Mucopolysaccharidosis type 1 (MPS 1) is a rare lysosomal storage disease belonging to the group of mucopolysaccharidoses. There are three variants, differing widely in their severity, with Hurler syndrome being the most severe, Scheie syndrome the mildest and Hurler-Scheie syndrome giving an intermediate phenotype.

ORPHA:579

Classification level: Disorder
  • Synonym(s):
    • Alpha-L-iduronidase deficiency
    • MPS1
    • MPSI
    • Mucopolysaccharidosis type I
  • Prevalence: 1-9 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: All ages
  • ICD-10: E76.0
  • OMIM: 607014  607015  607016
  • UMLS: C0023786  C2713321
  • MeSH: D008059
  • GARD: 10335
  • MedDRA: 10056886

Detailed information

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The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.