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Journal article

Epidemiology of mucopolysaccharidoses.

  • Khan SA Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE, United States.
  • Peracha H Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE, United States.
  • Ballhausen D Centre for Molecular Diseases, Service for Genetic Medicine, University Hospital Lausanne, Switzerland.
  • Wiesbauer A Institute of Social and Preventive Medicine, University of Bern, Switzerland.
  • Rohrbach M Division of Metabolism and Children's Research Centre (CRC), University Children's Hospital, Zurich, Switzerland.
  • Gautschi M Division of Endocrinology, Diabetology and Metabolism, University Children's Hospital, University Institute of Clinical Chemistry, Inselspital, University of Bern, Bern, Switzerland.
  • Mason RW Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE, United States.
  • Giugliani R Medical Genetics Service, HCPA, Dep. Genetics, UFRGS, and INAGEMP, Porto Alegre, Brazil.
  • Suzuki Y Medical Education Development Center, Gifu University.
  • Orii KE Department of Pediatrics, Gifu University, Gifu, Japan.
  • Orii T Department of Pediatrics, Gifu University, Gifu, Japan.
  • Tomatsu S Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE, United States; Department of Pediatrics, Gifu University, Gifu, Japan; Department of Pediatrics, Thomas Jefferson University, Philadelphia, PA, United States. Electronic address: stomatsu@nemours.org.
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  • 2017-06-10
Published in:
  • Molecular genetics and metabolism. - 2017
Epidemiology
Incidence
Japan
Mucopolysaccharidoses
Prevalence
Switzerland
Data Collection
Europe
Germany
Glycosaminoglycans
Humans
Incidence
Japan
Mucopolysaccharidoses
Mucopolysaccharidosis I
Mucopolysaccharidosis II
Mucopolysaccharidosis III
Mucopolysaccharidosis VI
Netherlands
Prevalence
Retrospective Studies
English The aim of this study was to obtain data about the epidemiology of the different types of mucopolysaccharidoses in Japan and Switzerland and to compare with similar data from other countries. Data for Japan was collected between 1982 and 2009, and 467 cases with MPS were identified. The combined birth prevalence was 1.53 per 100,000 live births. The highest birth prevalence was 0.84 for MPS II, accounting for 55% of all MPS. MPS I, III, and IV accounted for 15, 16, and 10%, respectively. MPS VI and VII were more rare and accounted for 1.7 and 1.3%, respectively. A retrospective epidemiological data collection was performed in Switzerland between 1975 and 2008 (34years), and 41 living MPS patients were identified. The combined birth prevalence was 1.56 per 100,000 live births. The highest birth prevalence was 0.46 for MPS II, accounting for 29% of all MPS. MPS I, III, and IV accounted for 12, 24, and 24%, respectively. As seen in the Japanese population, MPS VI and VII were more rare and accounted for 7.3 and 2.4%, respectively. The high birth prevalence of MPS II in Japan was comparable to that seen in other East Asian countries where this MPS accounted for approximately 50% of all forms of MPS. Birth prevalence was also similar in some European countries (Germany, Northern Ireland, Portugal and the Netherlands) although the prevalence of other forms of MPS is also reported to be higher in these countries. Birth prevalence of MPS II in Switzerland and other European countries is comparatively lower. The birth prevalence of MPS III and IV in Switzerland is higher than in Japan but comparable to that in most other European countries. Moreover, the birth prevalence of MPS VI and VII was very low in both, Switzerland and Japan. Overall, the frequency of MPS varies for each population due to differences in ethnic backgrounds and/or founder effects that affect the birth prevalence of each type of MPS, as seen for other rare genetic diseases. Methods for identification of MPS patients are not uniform across all countries, and consequently, if patients are not identified, recorded prevalence rates will be aberrantly low.
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  • English
Open access status
green
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https://sonar.ch/global/documents/233169
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