Methylmalonic Acidemia (Methylmalonyl–CoA Mutase Deficiency)


Methylmalonic acidemia is an inborn error of metabolism, an inherited condition in which an enzyme, methylmalonyl-CoA mutase, in the body is either missing or not working well. This is just one type of methylmalonic acidemia. Methylmalonic acidemia is considered an organic acid condition because it can lead to the build-up of harmful amounts of organic acids and toxins in the body. Symptoms can vary and may include feeding and growth problems, vomiting, extreme tiredness/lethargy, enlarged liver, kidney problems, developmental delay, seizures and/or other potential signs and symptoms. Methylmalonic acidemia can be a life-threatening condition. However, early detection and intervention can benefit children with this condition. Support groups are available to help connect families living with methylmalonic acidemia with others who have experience or expertise with organic acid conditions.

For more information about Methylmalonic acidemia methylmalonyl-CoA mutase deficiency, visit Baby's First Test: Methylmalonic acidemia (methyl-CoA mutase deficiency). Please see Medically Prescribed Formula for information about medically prescribed formula and pharmacologic interventions for inborn errors of metabolism. A listing of contact information for Minnesota inborn errors of metabolism medical specialty providers/clinics serving children affected with or undergoing evaluation for conditions that can be detected through Minnesota Newborn Screening is available upon request.