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Incidence and Epidemiology

MPS VI is 1 of approximately 50 known lysosomal storage disorders (LSDs). Although individually rare, LSDs are common as a group, occurring in approximately 1 in 5,000 live births. In comparison, the incidence rates of other genetic diseases in the United States are approximately 1 in 15,000 live births for phenylketonuria and 1 in 3,300 live births (among Caucasians) for cystic fibrosis. LSDs clearly represent a significant medical need.1-4

For MPS VI, observational studies (listed in the table below) suggest that the incidence may vary among different populations and geographic regions, from 1 in 238,000 to 1 in 1,298,000.5-9

Studies Analyzing Incidence of MPS VI

Geographic Region Years Analyzed Calculated Incidence of MPS VI (live births)
Northern Portugal5 1982–2001 1 / 238,000
Australia6 1980–1996 1 / 248,000
Netherlands7 1970–1990 1 / 657,000
Northern Ireland8 1958–1985 <1 / 840,000
British Columbia, Canada9 1952–1986 1 / 1,298,000

Based on a combined analysis of the most recent studies, an average global incidence of MPS VI is approximately 1 in 340,000. About 1,100 individuals may be affected worldwide, although far fewer than that number have been diagnosed to date.10

  1. Fisher A, Fox J. Newborn screening for lysosomal storage disorders [fact sheet]. National MPS Society, Inc. 2004. Available at: http://www.mpssociety.org/content/4066/Fact_Sheets/. Accessed December 17, 2004.
  2. Phenylketonuria (PKU): screening and management. NIH Consensus Statement. 2000;17(3):1-33. Review. Available at: http://consensus.nih.gov/cons/113/113_statement.htm. Accessed January 5, 2005.
  3. Beers MH, Berkow R, eds. The Merck Manual of Diagnosis and Therapy [Internet ed.]. 17th ed. Merck & Co; 2004: section 19, chapter 267. Available at: http://www.merck.com/mrkshared/mmanual/home.jsp. Accessed January 5, 2005.
  4. Wilcox WR. Lysosomal storage disorders: the need for better pediatric recognition and comprehensive care. J Pediatr. 2004;144(5 Suppl):S3-S14. Review.
  5. Pinto R, Caseiro C, Lemos M, et al. Prevalence of lysosomal storage diseases in Portugal. Eur J Hum Genet. 2004;12:87-92.
  6. Meikle PJ, Hopwood JJ, Clague AE, Carey WF. Prevalence of lysosomal storage disorders. JAMA. 1999;281:249-254.
  7. Poorthuis BJ, Wevers RA, Kleijer WJ, et al. The frequency of lysosomal storage diseases in The Netherlands. Hum Genet. 1999;105:151-156.
  8. Nelson J. Incidence of the mucopolysaccharidoses in Northern Ireland. Hum Genet. 1997;101:355- 358.
  9. Lowry RB, Applegarth DA, Toone JR, et al. An update on the frequency of mucopolysaccharide syndromes in British Columbia. Hum Genet. 1990;85:389-390.
  10. Swiedler SJ, Beck M, Bajbouj M, et al. Threshold effect of urinary glycosaminoglycans and the walk test as indicators of disease progression in a survey of subjects with mucopolysaccharidosis VI (Maroteaux-Lamy syndrome). Am J Med Genet; 2005:134A:144-150
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