MCAD deficiency does not have a specific clinical presentation. In order to be able to confirm the diagnosis, several tests have to be done.
Patients who are going through a metabolic crisis will have some specific metabolites in their blood and urine.
But even without having to wait for a metabolic crisis to occur, some tests can be done to measure the enzymatic activity and to check the DNA of the patient for the gene mutations.

Newborns in Belgium are screened for a number of inborn, inherited disorders, among which MCAD deficiency. In newborn screening is searched for a specific metabolite in the blood.
Read further about screening >

MCAD deficiency can occur in serious but also in milder forms. Further examination of the activity of the MCAD enzyme can indicate how serious the MCAD deficiency is and can confirm the diagnosis.
Read further about measuring enzymatic activity >

Using genetic research the specific mutations on the ACADM gene can be investigated. This can confirm with certainty the MCAD diagnosis and identify the mutation(s).
Read further about genetic research >

A patient who wasn't diagnosed before (eg because he was born before the newborn screening started) can present himself sooner or later in the hospital with a metabolic crisis. Based on these symptoms the diagnosis can also be made.
Read further about metabolic crisis >

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.

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