Combined malonic and methylmalonic aciduria

This article is about CMAMMA due to ACSF3 deficiency. For CMAMMA due to malonyl-CoA decarboxylase deficiency, see malonic aciduria.
Combined malonic and methylmalonic aciduria
Other namesACSF3 deficiency, non-classic CMAMMA
SpecialtyMedical genetics
Usual onsetAll ages
CausesPathogenic biallelic variants in the ACSF3 gene

Combined malonic and methylmalonic aciduria (CMAMMA), also called combined malonic and methylmalonic acidemia is an inherited metabolic disease biochemically characterized by elevated levels of malonic acid and methylmalonic acid. However, the methylmalonic acid levels exceed those of malonic acid. CMAMMA is not only an organic aciduria but is also defined by defects of mitochondrial fatty acid synthesis (mtFAS) and mitochondrial lysine malonylation. Researchers have suggested that CMAMMA might be one of the most common forms of methylmalonic acidemias, and possibly one of the most common inborn errors of metabolism. As CMAMMA does not show up in routine newborn screening, and symptoms are variable and often appear only in adulthood, diagnoses are frequently delayed or entirely missed, making genetic methods the key to its detection.


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