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Previous Volume 297:127-132 July 21, 1977 Number 3 Next

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Abstract

We studied the clinical and biochemical manifestations of complete adenine phosphoribosyltransferase deficiency in the kindred of a male homozygous child excreting stones of 2,8-dihydroxyade-nine. Abnormal amounts of adenine, 8-hydroxyade-nine and 2,8-dihydroxyadenine (25 per cent of total purine metabolites) appeared in the urine of the propositus and his clinically normal brother, but not in heterozygotes or a control. Adenine phosphoribosyl-transferase activity in erythrocytes was less than 1 per cent of normal in both homozygotes and varied from 20 to 57 per cent of normal in six heterozygotes. Heterozygotes exhibited neither hyperuricemia nor gout. Treatment of the propositus with allopurinol and a low purine diet stopped stone formation. In addition, excretion of 2,8-dihydroxyadenine decreased. An autosomal recessive mode of inheritance with variable expression in the phenotype is indicated. Homozygotes may be detected by their raised urinary adenine levels or absence of detectable erythrocyte adenine phosphoribosyltransferase activity (or both).

This article has been cited by other articles:

• Fye, K. H., Sahota, A., Hancock, D. C., Gelb, A. B., Chen, J., Sparks, J. W., Sibley, R. K., Tischfield, J. A. (1993). Adenine Phosphoribosyltransferase Deficiency With Renal Deposition of 2,8-Dihydroxyadenine Leading to Nephrolithiasis and Chronic Renal Failure. Arch Intern Med 153: 767-770 [Abstract]  
• Rundles, R. W. (1985). The Development of Allopurinol. Arch Intern Med 145: 1492-1503 [Abstract]  
• Fiechtner, J. J., Simkin, P. A. (1981). Urate Spherulites in Gouty Synovia. JAMA 245: 1533-1536 [Abstract]