Prevalence rates of mucopolysaccharidosis in Iraq: a retrospective cross-sectional observational study

Abstract

Background: Mucopolysaccharidosis (MPS) is a rare hereditary inborn error of metabolism that represents the largest heterogeneous group of lysosomal storage diseases (LSD) and is characterized by multiorgan impairment due to glycosaminoglycans (GAGs) accumulation in various tissues and organs, resulting in severe frailty and early death. This research aimed to figure out the specific and overall birth prevalence of mucopolysaccharidosis among Iraqi children, as well as the frequencies of each type, and to compare the results with epidemiological data from other Arabian countries. Methods: Information was collected and investigated from registered patients diagnosed with MPS in five metabolic centers in Iraq between 2010 and 2020. The numbers of live births in Iraq were obtained from the Ministry of Health and Environment (Health and vital statistics department) for the period mentioned above. Birth prevalence was calculated, and Poisson distribution for confidence intervals (95%) was considered through the implementation of MedCalc statistical software. The Hardy-Weinberg equation was used to calculate carrier frequency. Results: The overall prevalence of MPS at birth is 2.97 per 100,000 live births; different forms of MPS manifest at varied frequencies. MPS VI was the most often reported form in the Iraqi population (1.32 per 100,000 live births, or 44.41% of all MPS cases), followed by MPS IVA and MPS I (0.625 and 0.593 per 100,000 live births, respectively). The higher frequency rate of MPS VI was also reported in neighboring countries, including UAE and Saudi Arabia, which were 2.51 and 8.0 per 100,000 live births, respectively. Conclusions: The health systems should highly consider data obtained from prevalence studies in all affected countries, including health care specialists, clinical genetics, and workers in laboratories involved in MPS diagnosis.