Molecular Analysis of The MUT Gene of an Egyptian Patient with Methylmalonic Acidemia: Case Report

Abstract

Methylmalonic acidemia (MMA) is an autosomal recessive inherited inborn error of metabolism that results from the functional impairment of methyl malonyl-CoA mutase (MCM). The impairment of MCM is due to either defect in the apoenzyme (mut-type MMA) or in biosynthesis of the cofactor, adenosylcobalamin (cbl type). In this study, we analyze MUT gene mutations in an Egyptian patient diagnosed with MMA. The molecular analysis shows a previously reported homozygous missense mutation c.2150G>T (p.Gly717Val) in exon 13. This mutation located in C-terminal (βα)₅ B12-binding domain exhibiting a mutˉ MMA phenotype with pathogenic effect.