Adenosine deaminase enzyme is involved in purine metabolism. It is needed for the breakdown of adenosine from food. The disease is caused by a mutation in a gene on chromosome 20. The gene codes for the enzyme ADA. It is an inherited disorder that damages the immune system.
Treatment : 1. Bone marrow transplantation.
2. Transfusion of RBC.
If the gene isolated from marrow cells producing ADA is introduced in to cells at early embryonic stages, it could be a permanent cure.