Description

Adenosine Deaminase (ADA) deficiency is an autosomal recessive disorder of purine metabolism primarily affecting lymphocyte development, viability, and function. Affected individuals have less than 1 percent of normal ADA catalytic activity in red cell hemolysates. ADA deficiency is the cause of 20-30 percent of SCID cases. If the patient has been recently transfused, ADA deficiency may be masked; interpret results with caution. Heterozygotes cannot be identified by this test.