Adenosine Deaminase, Erythrocyte

ADA Deficiency

Whole Blood

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.