Methylmalonic Acidemia with Homocystinuria (MMA Cbl C, D, F)

 

Methylmalonic acidemia with homocystinuria (MMA Cbl C, D, F) is an inherited condition in which the body is unable to process certain fats and proteins. It is an organic acid condition because it can lead to a harmful excess of certain toxins and organic acids. MMA with homocystinuria (Cbl C, D, F) is one type of methylmalonic acidemia. Individuals with this form of MMA have trouble producing certain cobalamin enzymes, which causes harmful levels of homocysteine and methylmalonic acid to build up in their bodies.

This condition is also known as: type 2 vitamin B12 metabolic defect, methyltetrahydrofolate methyltransferase deficiency, combined deficiency of methylmalonyl CoA mutase and homocystinuria, CblC, CblD, CblF.

To learn more about Methylmalonic acidemia with homocystinuria, visit Baby's First Test: about Methylmalonic acidemia with homocystinuria and Screening, Technology, and Research in Genetics (STAR-G): Methylmalonic acidemia with homocystinuria. Please see Medically Prescribed Formula for information about medically prescribed formula and pharmacologic interventions for inborn errors of metabolism.