The Diagnostic Approaches to Methylmalonic Acidemia
Abdel-Azim Ghoraba, Dina / M. Mohamed, Magdy / K. Zaki, Osama
Methylmalonic acidemia (MMA) is an autosomal recessive disorder of methylmalonate and cobalamin (cbl, vitamin B12) metabolism. It results commonly from a defect in the gene encoding methylmalonyl CoA mutase apoenzyme MCM (mut MMA or vitamin B12-unresponsive MMA). This work highlights four aspects of methylmalonic aciduria diagnosis: First, it presents an overview of the diagnostic evaluation of patients with organic acidurias and several other...