Methylmalonic Acid, Quantitative, Plasma
Use
Elevated levels of methylmalonic acid (MMA) result from inherited defects of enzymes involved in MMA metabolism or inherited or acquired deficiencies of vitamin B12 (cobalamin) or its downstream metabolites. It is a specific diagnostic marker for disorders collectively called methylmalonic acidemia and can be a reliable marker of vitamin B12 deficiency. Evaluating children with signs and symptoms of methylmalonic acidemia as well as individuals with vitamin B12 deficiency symptoms can be beneficial in diagnosis.
Special Instructions
Not provided.
Limitations
Diet, nutritional status, and age should be considered when evaluating methylmalonic acid levels. Also, several conditions such as kidney insufficiency or bacterial overgrowth may contribute to mild methylmalonic acidemia. Improper specimen collection and handling can lead to diagnostic confusion.
New York Approved
Methodology
Mass Spectrometry (LC-MS/MS)
Biomarkers
Methylmalonic Acid
Analyte
LOINC Codes
- 13964-2 - Methylmalonate SerPl-sCnc
- 13964-2 - Methylmalonate SerPl-sCnc
Result Turnaround Time
3-5 days
Related Documents
For more information, please review the documents below
Specimen
Plasma
Volume
1.5 mL
Minimum Volume
0.5 mL
Container
Plastic vial
Collection Instructions
Centrifuge and aliquot plasma into a plastic vial.
Storage Instructions
Refrigerated (preferred) for 48 days; Ambient for 48 days; Frozen for 48 days.
Causes for Rejection
Gross hemolysis, lipemia, and icterus are acceptable.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 48 days |
| Refrigerated | 48 days |
| Frozen | 48 days |