Read about adenosine deaminase deficiency medical facts: what is the definition of adenosine deaminase deficiency, what are the signs and symptoms, medical treatment & how to treat adenosine deaminase deficiency, information about the causes, diagnosis, and related adenosine deaminase deficiency diseases.

Definition: What is "Adenosine Deaminase Deficiency"?


Adenosine Deaminase Deficiency (ADA) is a highly rare genetic disorder & is categorized as a form of severe combined immunodeficiency that largely affects body's immune system. To date, there are only about a dozen documented cases of ADA deficiency. This genetic disease is known to be quite fatal & often lead to death if afflicted patients do not seek treatment. People who have this disease usually lead a sheltered life & live in enclosed environment to prevent exposure to infectious agents.

Symptoms & Signs

Since ADA is basically a deficiency that affects the body's immune system, people with such disorders can be easily susceptible to every kind of infections, most particularly those that affect the respiratory system, skin & gastrointestinal tract. Babies that are born with this disease die within the first few months.

Treatment: How to Treat "Adenosine Deaminase Deficiency"?

The treatment for ADA deficiency includes bone marrow transplant from a biological match in order to provide some healthy immune cells. Blood transfusions & gene therapies are also some of the known treatments as well as stem cell therapy, although the latter is still in the experimental stage.


ADA is classified as an autosomal recessive disorder, which requires both parents as carrier that passes on the defective gene to their offspring causing the child to inherit this deficiency.


Doctors will be able to detect ADA deficiency during the pregnancy stage through taking samples tissues from the amniotic sac. Diagnosis can also be done by examining the enzyme levels in the blood samples of the fetus that is taken from the umbilical cord.

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