Human Genetics

, Volume 101, Issue 3, pp 355–358

Incidence of the mucopolysaccharidoses in Northern Ireland

  • J. Nelson
Original investigation

DOI: 10.1007/s004390050641

Cite this article as:
Nelson, J. Hum Genet (1997) 101: 355. doi:10.1007/s004390050641


An epidemiological study of the mucopolysaccharidoses (MPS) in Northern Ireland using multiple ascertainment sources was carried out and the incidence rate for the period 1958–1985 was estimated. An incidence of approximately 1 in 76 000 live births was obtained for MPS 1H (Hurler phenotype); 1 in 280 000 for MPS 1 H/S (Hurler/Scheie phenotype); 1 in 140 000 live births (1 in 72 000 male live births) for MPS II (Hunter syndrome); 1 in 280 000 for MPS III (Sanfilippo syndrome) and 1 in 76 000 for MPS IV A (Morquio syndrome type A). No cases of MPS IS (Scheie phenotype), MPS IV B (Morquio syndrome type B) or MPS VI (Maroteaux–Lamy syndrome) were ascertained during the study period. Three cases of non-immune hydrops fetalis born to consanguineous parents were thought to be due to β-glucuronidase deficiency (MPS VII) on the basis of placental histology and enzyme studies on both parents but no living cases of MPS VII were ascertained. The overall incidence for all types of mucopolysaccharidosis was approximately 1 in 25 000 live births. A comparison is made with incidence estimates obtained from other published studies.

Copyright information

© Springer-Verlag Berlin Heidelberg 1997

Authors and Affiliations

  • J. Nelson
    • 1
  1. 1.Consultant Clinical Geneticist, King Edward Memorial Hospital, 374 Bagot Road, Perth, Western Australia 6008 Tel.: +61 8 9340 1525; Fax: +61 8 9340 1678AU