Incidence of the mucopolysaccharidoses in Northern Ireland |
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Authors: | J Nelson |
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Institution: | (1) Consultant Clinical Geneticist, King Edward Memorial Hospital, 374 Bagot Road, Perth, Western Australia 6008 Tel.: +61 8 9340 1525; Fax: +61 8 9340 1678, AU |
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Abstract: | 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.
Received: 25 May 1997 / Accepted: 22 August 1997 |
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