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What is DAO deficiency?

DAO deficiency is the functional lack of the enzyme Diamine Oxidase or DAO, an enzyme synthetized in the enterocytes and the main responsible for eliminating histamine, a molecule found in food.

When there is an alteration in the metabolism of histamine due to the insufficient DAO activity, the ratio between ingested histamine and the ability to synthesize it is unbalanced. This fact makes difficult to broke down histamine and be properly eliminated through urine, causing the activation of certain histamine receptors followed by its accumulation in plasma. The consequence is the appearance of different symptoms.

The main origin of DAO deficiency is genetics. It is estimated that in around 80% of cases there is genetic predisposition with, at least, one altered variant of the AOC1 gene. Some people produce little diamine oxidase or its activity doesn’t work very well. Even so, there are other factors that aggravates the medical condition and symptomatology. Some of them decrease the enzyme activity (acquired origin) and others release histamine from mast cells such as menstrual period, stress situations, prolonged fasting, high-intensity sports, consumption of histamine-releasing drugs or food, environmental allergies and intestinal dysbiosis, among others.

It is estimated that in around 80% of cases there is a genetic predisposition with, at least, one altered variant of the AOC1 gene.

ACQUIRED ORIGIN (SECONDARY)

There are multiple factors that can develop a DAO deficiency. These can appear in a person with or without a genetic predisposition to DAO deficiency. Factors can be classified into 3 types: Pharmacological factors (DAO enzyme inhibitors drugs). Pathological factors (intestinal inflammatory diseases such as celiac disease, Crohn or Ulcerative Colitis, situations that generate inflammation of the intestinal mucosa such as acute gastroenteritis, intestinal dysbiosis with or without bacterial overgrowth, anorexia nervosa or intestinal resections). Consumption of alcoholic beverages (ethanol and histamine metabolites compete to be eliminated. The DAO enzyme is saturated and unable to carry out its function).

GENETIC ORIGIN (PRIMARY)

Genetics is the main origin of DAO deficiency (80%). In a family, the same altered variants of the AOC1 gene can be inherited and manifest different symptoms. What is inherited is the allelic alteration and not the symptom per se. For this reason, the same treatment can benefit a mother or father suffering from migraine and functional digestive disorders and their child with itchy skin and ADHD. From the International Institute of DAO deficiency we offer the possibility of knowing the status of the alleles of the 4 variants most associated with DAO deficiency: rs10156191, rs1049742, rs1049793 and rs2052129.

Genetic origin (Primary)

Genetics is the main origin of DAO deficiency (80%). In a family, the same altered variants of the AOC1 gene can be inherited and manifest different symptoms. What is inherited is the allelic alteration and not the symptom per se. For this reason, the same treatment can benefit a mother or father suffering from migraine and functional digestive disorders and their child with itchy skin and ADHD. From the International Institute of DAO deficiency we offer the possibility of knowing the status of the alleles of the 4 variants most associated with DAO deficiency: rs10156191, rs1049742, rs1049793 and rs2052129.

Acquired origin (Secondary)

There are multiple factors that can develop a DAO deficiency. These can appear in a person with or without a genetic predisposition to DAO deficiency. Factors can be classified into 3 types: Pharmacological factors (DAO enzyme inhibitors drugs). Pathological factors (intestinal inflammatory diseases such as celiac disease, Crohn or Ulcerative Colitis, situations that generate inflammation of the intestinal mucosa such as acute gastroenteritis, intestinal dysbiosis with or without bacterial overgrowth, anorexia nervosa or intestinal resections). Consumption of alcoholic beverages (ethanol and histamine metabolites compete to be eliminated. The DAO enzyme is saturated and unable to carry out its function).