We report a method for rapid prenatal detection of methylmalonic acidemia, consisting of measuring methylmalonly-CoA mutase (EC 5.4.99.2) activity in non-cultured amniotic cells and measuring the concentration of methylmalonate in the amniotic fluid. Immediate stabilization of the mutase activity in the non-cultured amniotic cell by its coenzyme adenosycobalamin, and use of methylmalonyl-CoA wi...

Dear Editor, Methylmalonic acidemia, one of the organic acidemias, is associated with a variety of clinical presentations ranging from very sick newborn infants to asymptomatic adults, regardless of the nature of the enzymatic defect or the biochemical abnormalities. A 6-year-old boy with a past history of methylmalonic acidemia presented to the emergency room with a one-week history of inflamm...

RATIONALE Methylmalonic acidemia (MMA) is a common organic acidemia, mainly due to methylmalonyl-CoA mutase (MCM) or its coenzyme cobalamin (VitB12) metabolic disorders. Cobalamin C (CblC) type is the most frequent inborn error of cobalamin metabolism; it can develop symptoms in childhood and often combine multisystem damage, which leads to methylmalonic acid, propionic acid, methyl citrate, an...