methylmalonic acidemia (mma) is usually caused by a deficiency of the enzyme methylmalonyl-coa mutase (mcm), a defect in the transport or synthesis of its cofactor, adenosyl-cobalamin (cbla, cblb, cblc, cblf, cbld, and cblx), or deficiency of the enzyme methylmalonyl-coa epimerase. a comprehensive diagnostic approach involves investigations of metabolites with tandem mass spectrometry, organic ...
