文摘
First comprehensive analysis of methylmalonic aciduria from South India MUT mutations contribute to 40% of MMA cases. MMAB and MMAA contribute to 33% and 20%, respectively. MUT and MMAB mutants have early onset and high mortality. Three novel mutations: MUTp.Ala376Serfs, MMAB p.Glu112* and MMAA p.Tyr24*