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Mucopolysaccharidoses

Definition

Mucopolysaccharidoses (MPSs) are a group of rare diseases in which the body is missing or does not have enough of an enzyme needed to break down long chains of sugar molecules. These chains of molecules are called glycosaminoglycans (formerly called mucopolysaccharides). As a result, the molecules build up in different parts of the body and cause various health problems. There are several other types of MPSs, including:

  • MPS I (Hurler syndrome; Hurler-Scheie syndrome; Scheie syndrome)
  • MPS II (Hunter syndrome)
  • MPS III (Sanfilippo syndrome)
  • MPS IV (Morquio syndrome)

Alternative Names

MPS; Lysosomal storage disease - mucopolysaccharidosis

References

Pyeritz RE. Inherited diseases of connective tissue. In: Goldman L, Schafer AI, eds. Goldman-Cecil Medicine. 25th ed. Philadelphia, PA: Elsevier Saunders; 2016:chap 260.

Spranger JW. Mucopolysaccharidoses. In: Kliegman RM, Stanton BF, St. Geme JW, Schor NF, eds. Nelson Textbook of Pediatrics. 20th ed. Philadelphia, PA: Elsevier; 2016:chap 88.

Wraith JE. Mucopolysaccharidoses and oligosaccharidoses. In: Saudubray J-M, van den Berghe G, Walter JH, eds. Inborn Metabolic Diseases: Diagnosis and Treatment. 5th ed. New York, NY: Springer; 2013:chap 40.