dATP appears to be the major purine metabolite implicated in ADA deficiency.In spite of an important decrease of erythrocyte dATP levels, closely related to a marked clinical improvement, no significant restoration of immune function was observed. Thus red cell transfusion appears to be not a sufficiently effective therapy in ADA deficiency.
REFERENCESBoulieu, R., Bory, C. and Gonnet, C. High performance liquid chromatographic method for the analysis of purine and pyrimidine bases, ribonucleosides and deoxyribonucleosides in biological fluids. J. Chromatogr. 339 (1985a) 380-387 Boulieu, R., Bory, C. and Gonnet, C. Liquid chromatographic measurement of purine nucleotides in blood cells. Clin. Chem. 31 (1985b) 727-731 Hirschhorn, R. Inherited enzyme deficiencies and immunodeficiency: adenosine deaminase (ADA) and purine nucleoside phosphorylase (PNP) deficiencies.
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