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Mucopolysaccharidosis Type I

Abstract

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Synonyms of Mucopolysaccharidosis Type I

  • Gargoylism
  • Hurler Disease
  • MPS Disorder I
  • MPS I

Disorder Subdivisions

  • Hurler-Scheie Syndrome (MPS IH/S)
  • Hurler Syndrome (MPS IH)
  • Scheie Syndrome (MPS IS)

General Discussion

Mucopolysaccharidoses (MPS disorders) are a group of rare genetic disorders caused by the deficiency of one of ten specific lysosomal enzymes, resulting in an inability to metabolize complex carbohydrates (mucopolysaccharides) into simpler molecules. The accumulation of these large, undegraded mucopolysaccharides in the cells of the body causes a number of physical symptoms and abnormalities.

Mucopolysaccharidosis type I (MPS I) is a form of MPS caused by a deficiency of the enzyme alpha-L-iduronidase. The most severe form of MPS I is often called Hurler syndrome (or MPS IH). It is named for the physician, Gertrud Hurler, who first described the disorder in 1919. A milder form of MPS I is called Scheie syndrome (or MPS IS), and the name Hurler-Scheie (MPS IH/S) is sometimes applied to an intermediate form that does not fit clearly in either the milder or more severe category.

Mucopolysaccharidosis Type I Resources

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