Adenosine deaminase deficiency, or ADA deficiency, is an inherited immunodeficiency syndrome accounting for about 25% of all cases of Severe combined immunodeficiency. It is due to deficiency of the enzyme adenosine deaminase. Its disease features are due to accumulation of dATP, which causes an increase in S-adenosylhomocysteine; both substances are toxic to lymphocytes. The enzyme adenosine deaminase is important for purine metabolism.

Treatment

• bone marrow transplant
• gene therapy (efforts halted due to increased incidence of leukemia)
• ADA eznyme in PEG vehicle

External link

• OMIM #102700 (http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=#102700)