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Test Code MMAS Methylmalonic Acid, Quantitative, Serum

Additional Codes

Mayo Test ID
MMAS

Reporting Name

Methylmalonic Acid, QN, S

Useful For

Evaluating children with signs and symptoms of methylmalonic acidemia using serum specimens

 

Evaluating individuals with signs and symptoms associated with a variety of causes of vitamin B12 (cobalamin) deficiency

Performing Laboratory

Mayo Clinic Laboratories in Rochester

Specimen Type

Serum


Specimen Required


Collection Container/Tube:

Preferred: Serum gel

Acceptable: Red top

Submission Container/Tube: Plastic vial

Specimen Volume:1.5 mL

Collection Instructions: Centrifuge and aliquot serum into a plastic vial.


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) Performed

Monday through Friday

Test Classification

This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. It has not been cleared or approved by the US 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

Interpretation

In pediatric patients, markedly elevated methylmalonic acid values indicate a probable diagnosis of methylmalonic acidemia. Additional confirmatory testing must be performed.

 

In adults, moderately elevated values indicate a likely vitamin B12 (cobalamin) deficiency.

Clinical Reference

1. Fenton WA, Gravel RA, Rosenblatt DS. Disorders of propionate and methylmalonate metabolism. In: Valle D, Antonarakis S, Ballabio A, Beaudet AL, Mitchell GA, eds. The Online Metabolic and Molecular Basis of Inherited Disease. McGraw-Hill; 2019. Accessed November 27, 2023. Available at https://ommbid.mhmedical.com/content.aspx?sectionid=225086103&bookid=2709

2. Klee GG. Cobalamin and folate evaluation: measurement of methylmalonic acid and homocysteine vs vitamin B(12) and folate. Clin Chem. 2000;46(8):1277-1283

3. Watkins D, Rosenblatt DS. Inherited disorders of folate and cobalamin transport and metabolism. In: Valle D, Antonarakis S, Ballabio A, Beaudet AL, Mitchell GA, eds. The Online Metabolic and Molecular Basis of Inherited Disease. McGraw-Hill; 2019. Accessed November 27, 2023. Available at https://ommbid.mhmedical.com/content.aspx?sectionid=225548307&bookid=2709

4. Vashi P, Edwin P, Popiel B, Lammersfeld C, Gupta D. Methylmalonic acid and homocysteine as indicators of vitamin B-12 deficiency in cancer. PLoS One. 2016;11(1):e0147843

Report Available

3 to 5 days

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)

-Biochemical Genetics Test Request (T798)