Abstract
Some forms of combined immunodeficiency (CID) have been shown to have deficient activity of the enzyme adenosine deaminase (ADA). Earlier detection of CID prior to infection, by ADA assay, would greatly benefit those patients, particularly if a histocompatible marrow donor were available. As the usual methods for measuring ADA are too laborious for large scale screening and require venous blood not readily available from newborns, we have developed a screening method using blood spotted on filter paper identical to the samples used in the Guthrie test for phenylketonuria. This method depends on pH reagents incorporated into a gel containing adenosine, which change color as ammonia is released in the presence of ADA. The method is about 97% accurate, and is simple to perform. The cost is about 1½ cents per sample. This technique has also been adapted for screening of serum, cultured fibroblasts, tissue hemogenates, and eluates from column chromatography with pH < 6.
A pilot study using this method is at present underway at the PKU laboratory of the New York State Dept. of Health, Division of Labs, and Research, in Albany, N.Y., which analyzes blood from all newborns in the eastern half of New York State.
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Moore, E., Meuwissen, H. & Porter, I. SCREENING FOR ADA DEFICIENCY. Pediatr Res 8, 415 (1974). https://doi.org/10.1203/00006450-197404000-00452
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DOI: https://doi.org/10.1203/00006450-197404000-00452