The Methylmalonic Acid, GC/MS/MS, Urine (MMA) test contains 1 test with 2 biomarkers.
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.