Methylmalonic acidemia (MMA) is widely considered as an autosomal recessive metabolic disorder that results in accumulation of high levels of methylmalonic acid and eventually brain damage. This study aims to investigate the effects of methylmalonic acid on neurons and analyze various gene expression profiles in rat cortical neurons treated with methylmalonic acid in order to understand the eff...

Abstract Background Methylmalonic acidemia with homocystinuria is caused by a rare inborn error of vitamin B12 (cobalamin) metabolism. There are four complementation classes cobalamin defects cblC, cblD, cblF, and cblJ that responsible for combined methylmalonic homocystinuria. Case presentation We report case Pakistani family composed six children diagnosed (MMA + HCU). Mutation analysis sibli...

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...