Determination of Methylmalonic Acid in Serum, Plasma and Urine by LCMS-8030 using RECIPE ClinMass^® Complete Kit MS5000

Measurement of methylmalonic acid (MMA) is used as a specific diagnostic marker for the group of disorders known collectively called as methylmalonic acidemias. The metabolic pathway involves methylmalonyl-coenzyme A (CoA) being converted into succinyl-CoA. Vitamin B₁₂ is also needed for this conversion. Therefore measurement of MMA can be used to diagnose a number of genetic disorders in this pathway and is elevated in 90-98% of patients with B₁₂ deficiency. Typically the concentration of MMA is low and normally requires off-line extraction before analysis, however in these experiments a sensitive method was developed requiring minimal pre-treatment with just 10 μL sample injection to achieve suitable detection.