Methylmalonic Acid (MMA), Serum
Fasting Required: No

Specimen: Blood

Results: 3-5 Business Days

Description:
Methylmalonic Acid(MMA) is a substance produced when proteins (amino acids) in the body break down. MMA is used to help detect early and/or mild vitamin B12 deficiency, especially at the tissue level.

Methodology
Gas Chromatography/Tandem Mass Spectrometry (GC/MS/MS)

Reference Range(s)
87-318 nmol/L

Clinical Significance
Methylmalonic acid is metabolized as methylmalonyl CoA from the catabolism of certain amino acids and fatty acids. Methylmalonyl CoA is then converted to Succinic acid by the following reaction: Methylmalonic Acid Methylmalonyl CoA Mutase + B12 Succinic Acid

The enzyme Methylmalonyl CoA mutase requires Vitamin B12 (Cobalamin) as a cofacter. MMA is used to evaluate cobalamin deficiency. Elevated serum MMA reflects decreased tissue cobalamin levels and is an early indicator of vitamin B12 deficiency. Cobalamin dependent neurological disease with normal hematologic parameters and serum B12 levels is frequently associated with significant elevations of serum methylmalonic acid.

Methylmalonic Acidemia is an autosomal recessive inborn error of metabolism, in which there is a deficiency of the enzyme methylmalonyl CoA mutase, resulting in a large accumulation of MMA in serum and urine. There is also a combined defect in the cobalamin pathway with elevation of both MMA and homocysteine.

Note: Result turn around times are an estimate and are not guaranteed. Our reference lab may need additional time due to weather, holidays, confirmation/repeat testing, or equipment maintenance.