Adenosine Deaminase Deficiency

Below you will find more information about Adenosine Deaminase Deficiency from Medigest. If you believe that you are suffering from any of the symptoms of Adenosine Deaminase Deficiency it is important that you obtain an accurate diagnosis from a medical professional to ensure that you obtain the correct medication or treatment for your condition. There are medical conditions that carry similar symptoms associated with Adenosine Deaminase Deficiency and therefore the information provided by Medigest is offered as a guideline only and should never be used in preference to seeking professional medical advice. The information relating to Adenosine Deaminase Deficiency comes from a third party source and Medigest will not be held liable for any inaccuracies relating to the information shown.

Definition

Adenosine Deaminase Deficiency (ADA) is a highly rare genetic disorder and 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, and often lead to death if afflicted patients do not seek treatment. People who have this disease usually lead a sheltered life and live in enclosed environment to prevent exposure to infectious agents.

Diagnosis

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.

Treatment

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

Symptoms and 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, and gastrointestinal tract. Babies that are born with this disease die within the first few months.

Causes

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.

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