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 ...

An assay method for the methylmalonyl-CoA mutase of leukocytes obtained from 3 ml of blood was established. The enzyme activity which was measured with or without the in vitro addition of 5'-deoxyadenosylcobalamin was found to be of value for the diagnosis of two variants of methylmalonic acidemia (vitamin B12 responsive and unresponsive), and also for the detection of heterozygotes with the vi...

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 ...

a clinical presentation of a metabolic disorder, often first seen in infants who present with poor feeding, vomiting, tachypnea, acidosis, hyperammonemia, ketosis, ketonuria, irritability, and convulsions or hypotonia and lethargy, findings that are otherwise suggestive of neonatal sepsis diseases with oa isovaleric and propionic acidemias, maple syrup urine disease, medium chain acyl dehydroge...