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Mucopolysaccharidoses

Abstract

You are reading a NORD Rare Disease Report Abstract. NORD’s full collection of reports on over 1200 rare diseases is available to subscribers (click here for details). We are now also offering two full rare disease reports per day to visitors on our Web site.

NORD is very grateful to Deborah Marsden, MD, Metabolism Program, Children's Hospital Boston, for assistance in the preparation of this report.

Synonyms of Mucopolysaccharidoses

  • MPS
  • MPS Disorder

Disorder Subdivisions

  • MPS 1 H/S (Hurler/Scheie Syndrome)
  • MPS I H (Hurler Disease)
  • MPS II-(Hunter Syndrome)
  • MPS III A, B, C, and D (Sanfillipo Syndrome)
  • MPS I S (Scheie Syndrome)
  • MPS IV A and B (Morquio Syndrome)
  • MPS IX (Hyaluronidase Deficiency)
  • MPS VII (Sly Syndrome)
  • MPS VI (Maroteaux-Lamy Syndrome)

General Discussion

The mucopolysaccharidoses (MPS) are a group of inherited lysosomal storage disorders. Lysosomes function as the primary digestive units within cells. Enzymes within lysosomes break down or digest particular nutrients, such as certain carbohydrates and fats. In individuals with MPS disorders, deficiency or malfunction of specific lysosomal enzymes leads to an abnormal accumulation of certain complex carbohydrates (mucopolysaccharides or glycosaminoglycans) in the arteries, skeleton, eyes, joints, ears, skin, and/or teeth. These accumulations may also be found in the respiratory system, liver, spleen, central nervous system, blood, and bone marrow. This accumulation eventually causes progressive damage to cells, tissues, and various organ systems of the body. There are several different types and subtypes of mucopolysaccharidosis. These disorders, with one exception, are inherited as autosomal recessive traits.

Organizations related to Mucopolysaccharidoses

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