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HelpTest Code MMAS Methylmalonic Acid, Quantitative, Serum
Reporting Name
Methylmalonic Acid, QN, SUseful For
Evaluating children with signs and symptoms of methylmalonic acidemia
Evaluating individuals with signs and symptoms associated with a variety of causes of cobalamin (vitamin B12) deficiency
Performing Laboratory
Mayo Clinic Laboratories in Rochester
Specimen Type
SerumSpecimen Required
Container/Tube:
Preferred: Red top
Acceptable: Serum gel
Specimen Volume: 1.5 mL
Specimen Minimum Volume
0.5 mL
Specimen Stability Information
| Specimen Type | Temperature | Time | Special Container |
|---|---|---|---|
| Serum | Refrigerated (preferred) | 48 days | |
| Ambient | 48 days | ||
| Frozen | 48 days |
Reference Values
≤0.40 nmol/mL
Day(s) and Time(s) Performed
Monday, Thursday; Continuously until 12 p.m.
Test Classification
This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. This test has not been cleared or approved by the U.S. Food and Drug Administration.CPT Code Information
83921
LOINC Code Information
| Test ID | Test Order Name | Order LOINC Value |
|---|---|---|
| MMAS | Methylmalonic Acid, QN, S | 13964-2 |
| Result ID | Test Result Name | Result LOINC Value |
|---|---|---|
| 80289 | Methylmalonic Acid, QN, S | 13964-2 |
Clinical Reference
1. Fenton WA, Gravel RA, Rosenblatt DS: Disorders of Propionate and Methylmalonate Metabolism. In The Online Metabolic and Molecular Basis of Inherited Disease (OMBBID). Edited by D Valle, AL Beaudet, B Vogelstein, et al. New York, NY, McGraw-Hill, 2014. Accessed 08/17/2017. Available at https://ommbid.mhmedical.com/book.aspx?bookid=2709#225069419
2. Klee GG: Cobalamin and folate evaluation measurement of methylmalonic acid and homocysteine vs vitamin B12 and folate. Clin Chem 2000;46(8):1277-1283
3. Watkins D, Rosenblatt DS: Inherited Disorders of Folate and Cobalamin Transport and Metabolism. In Scriver's The Online Metabolic and Molecular Basis of Inherited Disease (OMBBID). Edited by D Valle, AL Beaudet, B Vogelstein, et al. New York, NY, McGraw-Hill, 2014. Accessed 08/17/2017. Available at https://ommbid.mhmedical.com/book.aspx?bookid=2709#225069419
Method Description
Methylmalonic acid (MMA) is determined by liquid chromatography-tandem mass spectrometry (LC-MS/MS) stable isotope dilution analysis. The specimen is mixed with an internal standard (methyl-d3-malonic acid). MMA and d3-MMA are isolated by solid phase extraction. LC-MS/MS is performed using mobile phases and a short C18 column to separate MMA and d3-MMA from the bulk of the specimen matrix. The MS/MS is operated in the multiple reaction monitoring (MRM) negative mode to follow the precursor to product species transitions. Separation of MMA/d3-MMA from the more physiologically abundant succinic acid is accomplished by the careful selection of MRM transitions and optimization of the LC separation. The ratios of the extracted peak areas of MMA to d3-MMA determined by LC-MS/MS are used to calculate the concentration of MMA present in the sample.(Lacey J, Magera MJ, Matern M: Methylmalonic acid quantitation in serum, urine and amniotic fluid: a method modification with benefits. J Am Soc Mass Spec 2010:21[5], Supplement 1, S44)
Analytic Time
3 days (not reported on Saturday or Sunday)Reject Due To
| Gross hemolysis | OK |
| Gross lipemia | OK |
| Gross icterus | OK |
Method Name
Liquid Chromatography-Tandem Mass Spectrometry (LC-MS/MS)
Forms
If not ordering electronically, complete, print, and send 1 of the following forms with the specimen:
-General Request (T239)
-Benign Hematology Test Request (T755)