Methylmalonic acidemia
（重定向自Methylmalonic aciduria）
![](/Images/godic/202501/27/Methylmalonic_acid.svg1758.png")
![Methylmalonic acidemia has an autosomal recessive pattern of inheritance.](/Images/godic/202501/27/Autorecessive.svg1758.png")
![Methylmalonic acidemia is caused by a defect in the vitamin B12-dependent enzyme methylmalonyl CoA mutase.](/Images/godic/202501/27/Odd-chain_FA_oxydation1758.png")
Methylmalonic acidemia (MMA), also called methylmalonic aciduria, first characterized by Oberholzer et al. in 1967, is an autosomal recessive metabolic disorder. It is a classical type of organic acidemia. The result of this condition is the inability to properly digest specific fats and proteins, which in turn leads to a buildup of a toxic level of methylmalonic acid in the blood.