An epidemiological study of the mucopolysaccharidoses in Western Australia (WA) using multiple ascertainment sources was carried out and the incidence rate for the period 1969-1996 was estimated. An incidence of approximately 1 in 107,000 live births was obtained for MPS IH (Hurler phenotype); 1 in 320,000 live births (1 in 165,000 male live births) for MPS II (Hunter Syndrome); 1 in 58,000 for MPS III (Sanfilippo Syndrome); 1 in 640,000 for MPS IVA (Morquio Syndrome type A), and 1 in 320,000 for MPS VI (Maroteaux-Lamy Syndrome). The overall incidence for all types of mucopolysaccharidosis was approximately 1 in 29,000 live births. A comparison is made with incidence estimates obtained from other published studies.

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