¿How is it diagnosed the DAO deficiency? Interview to Dr. Eva Ruiz

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The DAO deficiency is an alteration in the metabolism of food histamine that occurs when there is low activity of the enzyme diamine oxidase (DAO). This situation occurs when, for different genetic, pharmacological and/or pathological factors, creates a considerable deficiency in the functional activity of this enzyme. In this video, the technical director of GENYCA-Diagnostic Group Alive, Eva Ruiz, tells us about this metabolic disorder and of the various tests that allow to identify the genetic origin of this health problem.

Thus, the most common detection of this enzyme deficiency is done by measuring the plasma levels of the enzyme DAO in blood. Therefore, the most common procedure is a blood test that measures the activity of this enzyme. “The problem of this measure is that it does not speak to us of the cause, because it shows us if there is a deficient enzyme activity and performs a photo at any moment, but is not giving us an explanation of what the cause of this metabolic disorder,” explains Ruiz.


Genetic Origin of DAO deficiency

However, from GENYCA-Diagnostic Group alive have developed a genetic test that assesses the genetic component as the cause of the deficit of DAO. “We try to put a name to the cause of the enzyme deficiency that we detect in a way,” details the plasma technical director.

In particular, this is oriented to detect certain variants in the gene that encodes the enzyme since, according to the scientific literature, there are certain variants of this gene that are linked to a lower enzyme activity.

“An enzyme whose functionality is diminished so genetics will impact on a worst reaction of the metabolization of histamine in the blood. It produces that histaminosis genetically caused by the patient’s genetic endowment. That is telling us that in many cases the deficit detected in blood is caused by genetics of the patient we are assigning causality to that deficit,” explains Ruiz.

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The International Society of DAO deficiency

The International Society of DAO deficiency promotes the advancement of science for the benefit of patients with this metabolic disorder and has among its objectives the exchange of ideas to deepen the knowledge of the Deficit of DAO, both of their biological bases as the clinical, diagnostic, therapeutic, and prevention, the promotion of scientific advances and their impact on the health system.

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