Abstract
Diamond Blackfan syndrome (DBS) is a severe congenital hypoplastic anaemia which may be accompanied by an up to 5 fold increase in red cell adenosine deaminase (ADA) activity (1,2). In a study of more than 10 patients with DBS we have found that the correlation between this disorder and elevated red cell ADA activity is not complete. However, we have observed that elevated ADA activity may be present in leukocytes and cultured fibroblasts of some DBS patients, suggesting that the abnormality can extend beyond the erythroid cells. The ADA protein in red cells of patients displaying hyperactivity is apparently normal as judged by a variety of experimental procedures. In a few cases a familial clustering of the anomolous ADA activity is evident, supporting previous observations (1) and indicating that the phenomenon may have a genetical basis. From our studies we can be sure that this hyperactivity is not due to allelic variation at the ADA structural locus and is more likely to result from a trans acting regulatory mechanism.
1. Glader, B.E., Backer, K., and Diamond, L.K. (1983) N. Engl. J. Med. 309, 1486-90.
2. Whitehouse, D.B., Hopkinson, D.A., and Evans, D.I.K. (1984) Lancet II, 1398-99.
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Whitehouse, D., Hopkinson, D. ABERRANT ACTIVITY OF ADENOSINE DEAMINASE IN THE DIAMOND BLACKFAN SYNDROME: 229. Pediatr Res 19, 782 (1985). https://doi.org/10.1203/00006450-198507000-00249
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DOI: https://doi.org/10.1203/00006450-198507000-00249
