Methylmalonic acidemia

The methylmalonic aciduria ( MMA) is an inborn metabolic disorder that is associated with the group of acidurias. It follows an autosomal recessive inheritance and occurs with an incidence of about 1 in 50,000. By a defect of the vitamin B12-dependent methylmalonyl- CoA mutase enzyme ( an isomerase ) or an absence of the provision of adenosylcobalamin of vitamin B12 ( a cofactor of the methylmalonyl- CoA mutase ), the amino acids valine, isoleucine, methionine and threonine, as well as fatty acids are not completely degraded odd chain length and cholic acid. Occurs in the metabolism leading to an accumulation of methylmalonyl -CoA. This accumulation of methylmalonyl -CoA leads to intoxication, which is expressed in metabolic crises. The metabolic crises untreated can lead quickly to severe brain damage or death.