Background: This cross-sectional study aimed to describe and discuss the epidemiology of mucopolysaccharidoses (MPS) in Tunisia.
Methods: Patients diagnosed with a MPS disorder in two referral laboratories in Tunisia between 1999 and 2021 were included. Diagnosis was based on clinical and radiological features and analysis of urinary glycosaminoglycans, and enzyme assay in some of the patients.
Results: Over the twenty-two years, 199 patients were diagnosed with MPS in Tunisia. The disorder was classified as MPS I, MPS II, MPS III, MPS IV, and MPS VI in 15.07%, 1.5%, 38.69%, 17.08% and 7.03% patients, respectively. Due to the lack of enzyme analysis, the disorder was classified as MPS I or II in 20.6% of patients, and no cases of MPS VII and IX were documented. Gender-ratio was 1.5 and age at diagnosis varied from 3 months to 18 years with a median of 46 months. Patients originated from across Tunisia, and no hotspot site was identified. During the survey period, 3,822,983 births occurred, which provides an estimated global incidence of MPS of 1:20,123 live births (4.97 per 100,000). MPS III was the most frequent type with an estimated incidence of 1.91 cases per 100,000 newborns.
Conclusions: MPS disorders, especially MPS III are relatively frequent in Tunisia, likely due to a high rate of consanguineous marriages. Implementation of enzyme and genetic tests in Tunisia will allow diagnosis confirmation and subtype recognition, as well as accurate genetic counseling and prenatal diagnosis for MPS.