Combined malonic and methylmalonic aciduria

Combined malonic and methylmalonic aciduria, abbreviated CMAMMA and also called combined malonic and methylmalonic acidemia, is an inherited metabolic disease marked by raised levels of both malonic acid and methylmalonic acid, with methylmalonic acid the higher of the two. It is also defined by defects of mitochondrial fatty acid synthesis and of mitochondrial lysine malonylation. Researchers have suggested it may be one of the most common forms of methylmalonic acidemia and possibly one of the most common inborn errors of metabolism. Because it does not appear in routine newborn screening and its symptoms are variable and often begin only in adulthood, diagnosis is frequently delayed or missed, which makes genetic testing the key to detecting it.