Measuring activity of the MCAD enzyme

Once the diagnosis of MCAD deficiency is suspected some tests can be done to see what level of activity of the MCAD enzyme can still be detected.
On the one hand this can confirm that the MCAD enzyme indeed does not function (properly) and that we can speak of a deficiency. This confirms the diagnosis.
On the other hand this test will indicate how much residual activity of the enzyme is still present and we could estimate the patients tolerance towards for example fasting. There are different varieties of MCAD deficiency, serious kinds, but also milder kinds.

The test to measure enzymatic activity can be done in 2 kinds of cells: lymphocytes and fibroblasts.

A lymphocyt is a kind of white blood cell. So lymphocytes can be found in a blood sample.
Fibroblasts are the most important cells of the connective tissue, and help among others with the construction of the skin tissue. So fibroblasts can be found in skin tissue.

The test on lymphocytes requires only a blood sample and can be done quite quickly (a few weeks). So this is the most obvious test to confirm the diagnosis in a neonate.
The test on fibroblasts requires a skin biopsie. A small piece of the skin is cut from a not too visible location (eg under the upper arm). Then these skin cells have to be cultured in a laboratory before the test can be done. This takes a whole lot longer (a few months or even a year).

Both tests are done in a similar way, the MCAD enzyme is present in both kinds of cells. In a specialized laboratory a specific substance (called a substrate) is added to the cells. This substance is specifically chosen because it will only react with the MCAD enzyme. By checking to what extend the enzym can act on this substance, we get an idea of how much residual activity is present.

Patients with a severe kind of MCAD deficiency have a residual activity of (far) less than 10%
If the residual activity is between 10 and 20 % of normal activity, then the MCAD deficiency is considered to be mild.

Genetic research can be done on the DNA of the patient in order to identify the specific mutation(s).

Read further about genetic research >

The information on this website is a summary of information that is publicly available on other websites as well as information from books for sale on the internet and in public book stores.
The content of this website is not validated by doctors, scientists or geneticists.

This page was last modified on 20 February 2011