Methylmalonic Acid, Quantitative, Serum
Use
The test is useful for evaluating children with signs and symptoms of methylmalonic acidemia using serum specimens, as well as evaluating individuals with signs and symptoms associated with a variety of causes of vitamin B12 (cobalamin) deficiency. Elevated MMA levels can result from inherited enzyme defects or acquired B12 deficiencies due to factors like intestinal malabsorption, impaired digestion, or poor diet. Elevated MMA is a diagnostic marker for various methylmalonic acidemia disorders, with significant implications for patient management and treatment.
Special Instructions
Please use one of the specified forms for submission if not ordering electronically: General Request (T239), Benign Hematology Test Request (T755), or Biochemical Genetics Test Request (T798). Ensure serum is centrifuged and aliquoted into a plastic vial before shipping.
Limitations
Diet, nutritional status, and age should be considered when evaluating methylmalonic acid levels in serum or urine. Elevated MMA levels in pediatric patients can indicate methylmalonic acidemia, while moderate elevations in adults suggest vitamin B12 deficiency. Other conditions such as kidney insufficiency and bacterial overgrowth can also affect MMA levels. Further confirmatory testing may be necessary to establish a definitive diagnosis.
New York Approved
Methodology
Mass Spectrometry (LC-MS/MS)
Biomarkers
LOINC Codes
- 13964-2
- 13964-2
Result Turnaround Time
3-5 days
Related Documents
For more information, please review the documents below
Specimen
Serum
Volume
1.5 mL
Minimum Volume
0.5 mL
Container
Plastic vial
Collection Instructions
Centrifuge and aliquot serum into a plastic vial.
Causes for Rejection
None listed, but follow proper collection instructions.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 48 days |
| Refrigerated | 48 days |
| Frozen | 48 days |