GENE FREQUENCIES OF METHYLMALONIC ACIDEMIA DISEASE AT THE GLOBAL LEVEL AND COMPILING THE PATHOGENIC MUTATIONS IN THE IRANIAN POPULATION

Gene Frequencies of Methylmalonic Acidemia Disease at the Global Level and Compiling the Pathogenic Mutations in the Iranian Population

Background: Methylmalonic acidemia (MMA) is a rare autosomal recessive metabolic disorder resulting from a genetic defect in methylmalonyl-CoA mutase (MCM) or a defect in the biosynthesis of its cofactor, adenosyl-cobalamin (AdoCbl).The disease is caused by a mutation in six main genes (MUT, MMAA, MMAB, MMADHC, MMACHC, and MCEE).In this investigati

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