Amelioration of Neurologic Abnormalities after Enzyme Replacement in Adenosine Deaminase Deficiency

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Abstract
INHERITED deficiency of the purine salvage enzyme adenosine deaminase (ADA) results in the fatal infantile syndrome of severe combined immunodeficiency.1 2 3 4 The accumulation of the purine substrates of ADA, adenosine and deoxyadenosine and their metabolites, including deoxyadenosine triphosphate (deoxy ATP) and cyclic AMP, appears to provide pathophysiologic mechanisms for lymphoid toxicity.5 6 7 8 9 10 Children with severe combined immunodeficiency due to ADA deficiency are generally indistinguishable clinically from patients with severe combined immunodeficiency of other origins, 2 3 4 but they may have several additional nonimmunologic abnormalities. Bony abnormalities are found in a substantial proportion of ADA-deficient patients, 2 3 4 , 11 and in vitro abnormalities of platelet function have been . . .