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Methylmalonic Acid or MMA is primarily ordered, sometimes along with homocysteine, to help diagnose an early or mild B12 deficiency. It may be ordered as a follow-up to a vitamin B12 test result that is in the lower end of the normal range.

Some researchers have suggested using MMA as a screening tool, especially among the elderly, who frequently have B12 deficiencies and may have few recognizable symptoms. However, this use is still controversial in the medical community and only a few doctors are using MMA for this purpose. MMA testing may not be suitable for monitoring because it is subject to variation and results do not reliably trend up or down in response to B12 treatment.

Occasionally, specialized MMA testing may be ordered to help diagnose methylmalonic acidemia, a rare inherited metabolic disorder that occurs in about 1 in 50,000 to 100,000 people. Babies with this disease are unable to convert methylmalonyl CoA to succinyl CoA. They appear normal at birth but as they ingest protein, they begin to show symptoms such as seizures, failure to thrive, mental retardation, strokes, and severe metabolic acidosis. Many newborn screening programs are now testing for this disorder.

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