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.
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.
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 >
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The content of this website is not validated by doctors, scientists or geneticists.