Background: The mucopolysaccharidoses (MPS) are a devastating heterogenous group of lysosomal storage disorders.
Aim: To evaluate the epidemiological profile of MPS in Tunisia.
Methods: we conducted a retrospective epidemiological survey covering the period 1970-2005. Multiple sources were used to identify affected patients.
Results: Ninety six confirmed MPS cases were collected from 132 suspected cases found in the surveyed data. Of the ninety six confirmed cases, 20% were from multiplex families. Consanguinity was found in 83% of the families. The crude rate for all types of mucopolysaccharidoses was 2.3 cases in 100,000 live births. The prevalence of MPS type I, III and IV, those most frequently occurring in the collected data, were estimated at 0.63, 0.7 and 0.45 per 100,000 live births, respectively. The cumulative incidence of MPS type VI (0.3 per 105 live births) was higher than reported in European countries; but, it is likely that...
Conclusion: The reported frequency of all types of MPS in Tunisia is underestimated.