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Skin and Connective Tissue Diseases > Connective Tissue Diseases > Mucinoses > Mucopolysaccharidoses > Mucopolysaccharidosis I
... > Nutritional and Metabolic Diseases > Metabolic Diseases > Metabolism, Inborn Errors > Lysosomal Storage Diseases > Mucopolysaccharidoses > Mucopolysaccharidosis I
... > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Metabolism, Inborn Errors > Lysosomal Storage Diseases > Mucopolysaccharidoses > Mucopolysaccharidosis I
... > Nutritional and Metabolic Diseases > Metabolic Diseases > Metabolism, Inborn Errors > Carbohydrate Metabolism, Inborn Errors > Mucopolysaccharidoses > Mucopolysaccharidosis I
... > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Metabolism, Inborn Errors > Carbohydrate Metabolism, Inborn Errors > Mucopolysaccharidoses > Mucopolysaccharidosis I

Preferred term

Mucopolysaccharidosis I  

Type

  • Topical Descriptor

Broader concept

Related concepts

Entry terms

  • Lipochondrodystrophies
  • Lipochondrodystrophy
  • Mucopolysaccharidosis 1
  • Mucopolysaccharidosis Type I

Scope note

  • Systemic lysosomal storage disease caused by a deficiency of alpha-L-iduronidase (IDURONIDASE) and characterized by progressive physical deterioration with urinary excretion of DERMATAN SULFATE and HEPARAN SULFATE. There are three recognized phenotypes representing a spectrum of clinical severity from severe to mild: Hurler syndrome, Hurler-Scheie syndrome and Scheie syndrome (formerly mucopolysaccharidosis V). Symptoms may include DWARFISM; hepatosplenomegaly; thick, coarse facial features with low nasal bridge; corneal clouding; cardiac complications; and noisy breathing.

History note

  • 1992; use LIPOCHONDRODYSTROPHY 1966-1991; MUCOPOLYSACCHARIDOSIS 5 was heading 1991, use MUCOPOLYSACCHARIDOSIS 1975-1990; for MUCOPOLYSACCHARIDOSIS 1 use LIPOCHONDRODYSTROPHY 1976-1991; for HURLER'S DISEASE use LIPOCHONDRODYSTROPHY 1975-1991; for SCHEIE'S SYNDROME use MUCOPOLYSACCHARIDOSIS 5 1975-1991;

In other languages

  • mukopolysakkaridoosi I

    Finnish

  • Hurler-Scheie
  • Hurler-Scheien oireyhtymä
  • Hurler-Scheien syndrooma
  • Hurler-Scheies syndrom
  • Hurlerin oireyhtymä
  • Hurlerin syndrooma
  • Hurlerin-Scheien oireyhtymä
  • Hurlers syndrom
  • I tyypin mukopolysakkaridoosi
  • mucopolysaccharidosis I
  • mucopolysaccharidosis typus I
  • mukopolysackaridos, typ I
  • Scheien oireyhtymä
  • Scheien syndrooma
  • Scheies syndrom
  • syndroma Hurler
  • syndroma Hurler-Scheie
  • syndroma Scheie
  • Mukopolysackaridos I

    Swedish

  • Alfa-L-iduronidasbrist
  • Hurler-Scheies sjukdom
  • Hurler-Scheies syndrom
  • Hurlers sjukdom
  • Hurlers syndrom
  • Lipokondrodystrofi
  • MPS I
  • Scheies sjukdom
  • Scheies syndrom

URI

http://www.yso.fi/onto/mesh/D008059

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