Methyl Malonic Acid Qual, Urine Spot Test

Methylmalonic Acid aka MMA is a specific diagnostics marker for a group of disorders collectively called Methylmalonic acidemias. The most immediate and common manifestations are Neonatal or Infantile metabolic ketoacidosis, failure to thrive and development delays. Excessive protein may cause life threatening episodes. Acquired causes of MM acidemia are more common and seen in patients with Cobalamine (Vitamin B12) deficiency due to intestinal malabsorption, impaired digestion or poor diet. Extreme levels of MMA in pediatric patients more often are prone to Methymalonic acidemia while in adults it is indicative of Cobalamine deficiency.

In this test, two specimens are to be collected; 1. A random urine sample, 2. A sample after fasting overnight. No other specific preparations are to be made for this test.

The test is solely carried out to check the MMA levels, which should be <3.60 millimol/mol creatinine. Monitors therapy for patients with MM acidemia. The rate of MMA excretion is elevated in patients with occult Cobalamine deficiency. MMA accumulates when this deficiency state exists and is identified by low normal values of vitamin B12. The adequacy of vitamin B12 is provided by a functional test of Quantization of urine methylmalonate.

1.2-4.0 milliliters of urine is collected. A random urine sample is collected first. The next day voided specimen after fasting overnight is collected. It is then transferred into a plastic container with no preservative, frozen in the refrigerator and dispatched to the lab. With the help of Liquid Chromatography-Tanden Mass Spectrometry (LC-MS/MS) method the test is conducted on the sample.