Abstract
The identification of 2,8-dihydroxyadenine (2,8-DHA), a uric acid analogue characterised by its extreme insolubility, as the principal component of so-called ‘uric acid’ stones in a young male child, was originally reported independently by workers in Paris and London1,2. The correct diagnosis resulted from the finding of nearly undetectable levels of the enzyme adenine phosphoribosyltransferase (APRT: EC 2.4.2.7) in erythrocyte lysates in the first instance1 and the detection of abnormal urinary levels of adenine (excreted together with 8, and 2, 8-DHA in consequence of the enzyme defect) in the latter case2. Since that time a further three cases have been identified in London2,3,4 (Dillon et al — in preparation). Another two are added to the list1,5 in this symposium by the French workers, one of which has appeared in abstract6 (Table 1).
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References
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© 1980 Plenum Press, New York
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Simmonds, H.A. et al. (1980). Spectrum of 2,8-Dihydroxyadenine Urolithiasis in Complete APRT Deficiency. In: Rapado, A., Watts, R.W.E., De Bruyn, C.H.M.M. (eds) Purine Metabolism in Man-III. Advances in Experimental Medicine and Biology, vol 122A. Springer, Boston, MA. https://doi.org/10.1007/978-1-4615-9140-5_55
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DOI: https://doi.org/10.1007/978-1-4615-9140-5_55
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