Methylmalonic Acid Test

Vitamin B-12is essential for your health. The vitamin helps to:

  • preserve neurological function
  • maintain red blood cell (RBC) production
  • facilitate normal DNA synthesis

Deficiencies can occur when you don’t get enough B-12 from your diet or when your body can’t use it properly.

Typically, vitamin B-12 deficiencies can be detected through the vitamin B-12 test. Additional testing may be needed for people who have both normal B-12 levels and clinical symptoms of vitamin B-12 deficiency. One test that can be used is the methylmalonic acid test.

What is the purpose of the test?

Methylmalonic acid is a compound that reacts with vitamin B-12 to produce coenzyme A (CoA). Coenzyme A is essential to normal cellular function. When vitamin B-12 deficiencies occur, methylmalonic acid levels increase. Measurement of methylmalonic acid through the methylmalonic acid test can provide your doctor with information about an existing vitamin deficiency, especially if the B-12 deficiency is mild or just beginning.

The methylmalonic acid test is more sensitive than the vitamin B-12 test. As a result, it’s better able to identify vitamin B-12 deficiencies at the lower end of the normal range. The methylmalonic acid test is often used along with the vitamin B-12 test or to clarify ambiguous vitamin B-12 test results.

It’s also often performed along with the homocysteine test. Homocysteine is an important molecule found in very small amounts in the body. Homocysteine must be metabolized by vitamin B-12, so low levels of the vitamin lead to elevated levels of homocysteine. Low levels of vitamin B-6 (pyridoxine) and B-9 (folate or folic acid) also lead to elevated levels of homocysteine. Learn more about the B vitamins.

When is the test ordered?

The methylmalonic acid test isn’t typically ordered as part of a routine physical exam. Your doctor may order the test if the result of your vitamin B-12 test is abnormal. In addition, the test may be ordered if you have symptoms of vitamin B-12 deficiency. Symptoms of B-12 deficiency include:

  • cognitive impairment
  • gait or walking abnormalities, which are usually measured during a standard neurologic examination
  • irritability
  • jaundice, which is often seen in people with liver disease
  • peripheral neuropathy, which occurs when the nerves are malfunctioning
  • weakness

The methylmalonic acid test may also be ordered if the results of other blood tests are abnormal. For instance, abnormal results from a homocysteine test may prompt your doctor to order the methylmalonic acid test.

The methylmalonic acid test is also frequently ordered for infants when the doctor suspects the presence of methylmalonic acidemia. Methylmalonic acidemia is a rare genetic disorder in which toxic levels of methylmalonic acid build up in the bloodstream.

How do you prepare for the test?

No specific preparation is needed for the methylmalonic acid test.

How is the test administered?

The methylmalonic acid test is performed on blood plasma or blood serum taken from a standard blood draw.

Typically, a doctor or nurse will take a blood sample from your arm in a clinical setting. The blood will be collected in a tube and sent to a lab for analysis.

Once the lab reports the results, your doctor will be able to provide you with more information about the results and what they mean.

What are the risks of the test?

Some people may experience discomfort when the blood sample is drawn. Needle sticks may result in pain at the blood draw site during the test. Following the test, you may experience pain or throbbing at the site where the blood was drawn. Bruising may also occur after the test is completed.

The risks of the methylmalonic acid test are minimal and are the same ones that can accompany any blood test. Potential, but rare, risks include:

  • difficulty obtaining a sample, resulting in multiple needle sticks
  • excessive bleeding at the needle site
  • fainting as a result of blood loss
  • accumulation of blood under the skin, known as hematoma
  • development of infection where the skin is broken by the needle

What do the test results mean?

The results of the methylmalonic acid test may vary depending on the laboratory that performs the test. In general, normal levels of methylmalonic acid are between 0.00 and 0.40 umol/mL (micromoles per milliliter).

Although higher levels of methylmalonic acid may be an indication of vitamin B-12 deficiency, elevated levels may not warrant immediate treatment. Your doctor may want to monitor your methylmalonic acid levels to determine if your vitamin B-12 deficiency is progressing. Your doctor may also order additional tests to determine the cause of the deficiency. These tests include homocysteine and folate tests (there’s an indirect correlation between abnormal folate levels and abnormal B-12 levels).

What conditions are associated with high levels of methylmalonic acid?

High levels of methylmalonic acid in the blood may also be an indication of kidney disease. Kidney disease is often identified through the use of other blood and diagnostic tests.

Damage to the kidneys can prevent the filtering of methylmalonic acid from the blood. This can result in increased levels of methylmalonic acid in the bloodstream. Therefore, the presence of high methylmalonic acid levels in people with kidney disease may not indicate the presence of a vitamin B-12 deficiency.

High levels of methylmalonic acid are also common during pregnancy.

The results of the test must be discussed with your doctor. Results will be evaluated along with other diagnostic test results to determine if a vitamin B-12 deficiency is present.

If it’s determined that you have a vitamin B-12 deficiency, your doctor may recommend:

  • increasing your intake of foods rich in B-12, such as beef, clams, and fortified cereals
  • taking B-12 supplements
  • receiving B-12 injections

What conditions are associated with low levels of methylmalonic acid?

It’s rare for someone to have low levels of methylmalonic acid. Low levels aren’t considered a cause for medical concern.

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