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Methyl Malonic Acid - Quantitative by LCMS

Anemia
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Report in 144Hrs

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nofastingrequire

No Fasting Required

Details

Marker of vitamin B12 deficiency.

₹5,180₹7,400

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Methyl Malonic Acid - Quantitative by LCMS

  • Why is it done?
    • Detect and measure methylmalonic acid (MMA) levels in urine or plasma to assess for vitamin B12 deficiency and metabolic disorders
    • Screen for pernicious anemia, inadequate B12 intake, or malabsorption syndromes
    • Diagnose methylmalonic acidemia (MMA), a rare autosomal recessive metabolic disorder affecting propionate metabolism
    • Evaluate patients with neurological symptoms, megaloblastic anemia, or peripheral neuropathy suggestive of B12 deficiency
    • Monitor patients with known B12 deficiency or inborn errors of metabolism affecting methylmalonic acid metabolism
    • Identify early renal dysfunction, as elevated MMA can indicate compromised kidney function
    • Typically performed when patients present with unexplained anemia, neuropathy, cognitive changes, or during newborn screening programs
  • Normal Range
    • Urine Methylmalonic Acid (Random or 24-hour): 0-4 mmol/mol creatinine (or <3.6 μmol/24 hours)
    • Plasma Methylmalonic Acid: 0.15-0.40 μmol/L (normal range may vary by laboratory)
    • Units of Measurement: μmol/L (plasma), mmol/mol creatinine (urine), or μmol/24 hours
    • Normal results indicate adequate vitamin B12 status and normal methylmalonic acid metabolism; negative findings suggest no evidence of B12 deficiency or methylmalonic acidemia
    • Elevated MMA (positive finding) indicates B12 deficiency, metabolic disorder, or kidney dysfunction; levels >0.40 μmol/L plasma or >4 mmol/mol creatinine are abnormal
    • Borderline elevated results may require repeat testing or correlation with other B12 markers (homocysteine, serum B12, methylmalonic CoA mutase activity)
  • Interpretation
    • Normal Results: Indicates sufficient vitamin B12 stores and normal propionate metabolism; rules out B12 deficiency-related neurological complications
    • Mildly Elevated (1.5-3x upper limit): Suggests early or mild B12 deficiency; early kidney disease; or heterozygous carrier status for methylmalonic acidemia
    • Moderately Elevated (3-10x upper limit): Indicates significant B12 deficiency, moderate renal impairment, or intermediate methylmalonic acidemia variant
    • Severely Elevated (>10x upper limit): Strongly suggests methylmalonic acidemia (primary form), severe renal failure, or advanced B12 deficiency with neurological risk
    • Factors Affecting Results: Kidney function (elevated creatinine can increase MMA); dietary B12 intake; medications affecting B12 absorption (metformin, proton pump inhibitors); recent B12 supplementation may falsely normalize results; fasting state; collection method (plasma vs urine)
    • Clinical Significance: MMA is more sensitive than serum B12 for detecting B12 deficiency; elevated MMA with normal B12 may indicate functional B12 deficiency; concurrent elevated homocysteine suggests B12/folate deficiency; MMA elevation without elevated homocysteine suggests metabolic disorder or kidney disease; in newborns, elevated MMA is critical for early methylmalonic acidemia diagnosis and intervention
  • Associated Organs
    • Primary Organ Systems: Gastrointestinal tract (B12 absorption), nervous system (neurological manifestations), bone marrow (hematopoiesis), kidneys (MMA clearance), and metabolic enzymes
    • Vitamin B12 Deficiency Complications: Pernicious anemia, megaloblastic anemia, peripheral neuropathy, subacute combined degeneration of spinal cord, cognitive decline, dementia, ataxia, paresthesia
    • Associated Medical Conditions: Pernicious anemia, intrinsic factor deficiency, Crohn's disease, celiac disease, chronic pancreatitis, terminal ileum disease, gastric bypass surgery, methylmalonic acidemia (cblA, cblB, cblC, cblD, cblF mutations), propionic acidemia, chronic kidney disease
    • Potential Complications of Abnormal Results: Irreversible neurological damage if B12 deficiency remains untreated; metabolic acidosis in methylmalonic acidemia; developmental delays in children; increased risk of thrombosis and cardiovascular events; renal dysfunction progression; cognitive impairment and permanent disability
    • Diseases Diagnosed or Monitored: Cobalamin (B12) deficiency, primary methylmalonic acidemia (various genetic forms), secondary methylmalonic acidemia, propionic acidemia, chronic kidney disease, autoimmune pernicious anemia, macrocytic anemia
  • Follow-up Tests
    • If Elevated MMA is Found: Serum vitamin B12 level; plasma homocysteine; serum folate and methylfolate; intrinsic factor antibodies and parietal cell antibodies; complete blood count (CBC); peripheral blood smear; serum creatinine and eGFR; methylmalonic CoA mutase enzyme activity testing
    • For B12 Deficiency Confirmation: Holotranscobalamin (active B12); intrinsic factor blocking and binding antibodies; gastric parietal cell antibodies; tissue transglutaminase (tTG) antibodies (if celiac disease suspected); Schilling test (if available)
    • For Methylmalonic Acidemia Diagnosis: Urine organic acid analysis; plasma amino acid profile; propionic acid and related metabolites; genetic testing for MMA-related genes (MMAA, MMAB, MMACHC, MMADHC, MUT); enzyme activity assays
    • For Renal Function Assessment: Serum creatinine, estimated glomerular filtration rate (eGFR), blood urea nitrogen (BUN), cystatin C, urinalysis, renal ultrasound or CT scan
    • Monitoring Frequency: For B12 deficiency treatment: repeat testing at 6-8 weeks post-initiation of therapy, then annually; for methylmalonic acidemia: every 1-3 months during acute phases, then quarterly to semi-annually during maintenance; for chronic kidney disease: every 3-6 months depending on disease severity
    • Complementary Tests: Homocysteine (differentiates B12 vs folate deficiency), methylfolate, vitamin B6 and B2, lipid panel, glucose, liver function tests, and neurological imaging (MRI, CT) if neurological symptoms present
  • Fasting Required?
    • Fasting Requirement: No - Fasting is NOT required for methylmalonic acid testing
    • Sample Collection Requirements: For plasma MMA: blood sample collected in appropriate tube (usually EDTA, heparin, or serum separator); for urine MMA: random spot urine sample or 24-hour urine collection as specified by laboratory
    • Sample Handling Instructions: Plasma samples must be processed quickly and frozen at -20°C or colder; urine samples should be refrigerated immediately and maintained at cold temperature until analysis; some laboratories prefer samples shipped on dry ice; consult laboratory for specific handling protocols
    • Medications to Avoid or Report: Inform laboratory of recent B12 supplementation or injections (within 2 weeks); report use of metformin, proton pump inhibitors, H2 blockers, antibiotics; medications affecting kidney function (ACE inhibitors, NSAIDs) should be documented; B12-containing supplements should be discontinued 48 hours before testing if possible for accurate results
    • Additional Patient Preparation: No special preparation needed; patient may eat and drink normally; for 24-hour urine collection, patient should discard first morning void, then collect all urine for next 24 hours into provided sterile container; maintain normal hydration and avoid excessive exertion; timing of collection should be consistent with provider instructions
    • Lab Coordination: Contact laboratory in advance for specific collection containers and instructions; LCMS testing requires specialized equipment; confirm turnaround time is typically 5-10 business days; some laboratories may require advance notice for this specialized test

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