EPIDEMIOLOGY AND RELATIVE INCIDENCE OF RARE NEUROMETABOLIC AND NEUROGENETIC DISORDERS IN IRAN

Background-With prevalent consanguineous marriages taking place in Iran, the probability of the incidence of some rare metabolic disorders are anticipated to be higher in this population. Methods-In a 10-year period, 128 families including 196 cases referred to the Dr. Karimi- Nejad Genetic Center with neurometabolic and neurogenetic disorders were evaluated. The diagnosis of suspected cases of “inborn errors of metabolism” were confirmed in collaboration with the Genetics and Metabolic Department of Erasmus University, Rotterdam. Results-Among the surveyed families, mucopoly-saccharidoses (MPS) was present in 41 families with 52 affected members, lipid storage diseases in 48 families with 77 patients and micromolecular metabolic disorders in 39 families with 67 affected members. In 50 families, prenatal testing showed 11 (22%) affected fetuses. In some instances, very rare metabolic disorders were observed, which were not previously reported in Iran. Conclusion-This study shows that in a population with high incidence of consanguineous marriages, some rare metabolic disorders are relatively common. Preventive measures including genetic counseling and detection of high-risk families by detailed investigation of index cases and appropriate family members are mandatory. Based on this information, detection of affected fetuses by prenatal testing is recommended.