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Mucopolysaccharidosis I

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.

Year introduced: 1992

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Tree Number(s): C16.320.565.202.715.640, C16.320.565.595.600.640, C17.300.550.575.640, C18.452.648.202.715.640, C18.452.648.595.600.640

MeSH Unique ID: D008059

Entry Terms:

  • Mucopolysaccharidosis Is
  • Mucopolysaccharidosis Type I
  • Mucopolysaccharidosis 1
  • Lipochondrodystrophy
  • Lipochondrodystrophies
  • Hurler Syndrome
  • Hurler's Disease
  • Disease, Hurler's
  • Hurler's Syndrome
  • Syndrome, Hurler's
  • Gargoylism
  • Gargoylisms
  • Gargoylism, Hurler Syndrome
  • Hurler Syndrome Gargoylism
  • Mucopolysaccharidosis Type Ih
  • Mucopolysaccharidosis Type Ihs
  • Type Ih, Mucopolysaccharidosis
  • Type Ihs, Mucopolysaccharidosis
  • Hurler Disease
  • Pfaundler-Hurler Syndrome
  • Scheie Syndrome
  • Scheie's Syndrome
  • Syndrome, Scheie's
  • Mucopolysaccharidosis Type Is
  • Mucopolysaccharidosis I-S
  • Mucopolysaccharidosis I S
  • Mucopolysaccharidosis V
  • Mucopolysaccharidosis 5
  • alpha-L-Iduronidase Deficiency
  • alpha L Iduronidase Deficiency
  • alpha-L-Iduronidase Deficiencies
  • Hurler-Scheie Syndrome
  • Hurler Scheie Syndrome
  • Mucopolysaccharidosis Type Ih S

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