Incidence of the mucopolysaccharidoses in Western Australia.

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.