Incidence of the mucopolysaccharidoses in Northern Ireland

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 beta-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.

Oral manifestations in children with mucopolysaccharidosis

“…1,8,9 It is estimated that the overall incidence of MPS is around 4 per100,000 live births (0.04%). [10][11][12] Each type of MPS is associated with a wide range of clinical heterogeneities; however, all possess some common characteristics such as multisystemic, chronic and progressive deterioration, with osteoarticular, audiovisual and cardiovascular changes. Mental retardation is rare in types IV and VI.…”

Subjective and Objective Assessment of Hand Function in Mucopolysaccharidosis IVa Patients

“…The reported incidence varies from 1 in 76,000 in Ireland (Nelson 1997) to 1 in 450,000 in Portugal (Pinto et al 2004). The classical description is of a skeletal dysplasia associated with short stature, but it has become apparent that it shares many features with the other MPS disorders like cardiac valve abnormalities, limited endurance, abnormal dentition, corneal clouding and cervical instability (Northover et al 1996).…”

Sanfilippo type B syndrome: five patients with an R565P homozygous mutation in the α-N-acetylglucosaminidase gene from the Okinawa islands in Japan

“…Including Tanaka's report (2002) eight MPS IIIB patients in seven families were not apparently related, which suggests that the prevalence of the R565P mutation in this small geographic area, the Okinawa islands, may be rather high, which further suggests a founder effect. The incidence of MPS III, including all four subtypes, has been estimated to be one in 24,000 live births in The Netherlands (van de Kamp et al 1981), one in 66,000 in Australia (Meikle et al 1999), and one in 280,000 in Northern Ireland (Nelson 1997). Although the number of our screened subjects was small, one person with an R565P heterozygous mutation was identified among 200 unrelated and unaffected subjects.…”