Quantitative methylmalonic acid analysis in plasma and urine is used to monitor the treatment of patients with methylmalonic acidemia due to either a defect in methylmalonyl-CoA mutase, or cobalamin (B12) metabolism. Methylmalonic acid levels are also assessed as part of a comprehensive risk assessment for B12 deficiency in adults. Methylmalonic acid analysis is performed by gas chromatography and mass spectrometry using stable isotope dilution method.
Plasma: 5 ml blood in a sodium heparin (green top) tube. Centrifuge and freeze plasma.
Urine: 2-5 ml urine, random or preferably morning first void, in a clean container without preservatives.
Shipping: Freeze and ship overnight frozen on dry ice.
Turnaround Time: 5 Days
Plasma: 80500, 83921, 82542
Urine: 80500, 82570, 83921, 82542
Consent Form: Biochemical Consent [PDF]
Requisition Form: General Test Requisition [PDF]