Abstract
The significance of partial deficiency of erythrocyte adenine phosphoribosyltransferase (APRT), reported in a number of subjects with gout, has been investigated by studying its incidence in 700 normal blood donors. Three clearly deficient subjects were found, an incidence not significantly different from that in patients with abnormalities of urate metabolism. A new assay method for APRT is described in which an erythrocyte lysate is incubated with adenine and phosphoribosylpyrophosphate (PRPP) for a given time; both hemoglobin and adenine nucleotide (AMP) are then precipitated with lanthanum phosphate; the change in absorbance of adenine at 260 nm reflects the extent of its conversion to AMP by APRT.
This is a preview of subscription content, log in via an institution to check access.
Similar content being viewed by others
References
Bakay, B., Telfer, M. A., and Nyhan, W. L. (1969). Assay of hypoxanthine-guanine and adenine phosphoribosyltransferases: A simple screening test for the Lesch-Nyhan syndrome and related disorders of purine metabolism. Biochem. Med. 3230.
Cartier, M. P., and Hamet, M. (1974). Une nouvelle maladie métabolique: Le deficit complet en adenine-phosphoribosyltransferase avec lithiase de 2,8-dihydroxyadenine. Compt. Rend. Acad. Sci. Paris 279883.
Delbarre, F., Auscher, C., Amor, B., and DeGery, A. (1974). Gout with adenine phosphoribosyltransferase deficiency. In Sperling, O., DeVries, A., and Wyngaarden, J.B. (eds.), Purine Metabolism in Man, Plenum Press, New York, p. 333.
Emmerson, B. T., and Wyngaarden, J. B. (1969). Purine metabolism in heterozygous carriers of hypoxanthine-guanine phosphoribosyltransferase deficiency. Science 1661533.
Emmerson, B. T., Gordon, R. B., and Thompson, L. (1975). Adenine phosphoribosyltransferase deficiency: Its inheritance and occurrence in a female with gout and renal disease. Aust. N.Z. J. Med. 5440.
Fox, I. H., Meade, J. C., and Kelley, W. N. (1973). Adenine phosphoribosyltransferase deficiency in man. Am. J. Med. 55614.
Kelley, W. N., Rosenbloom, F. M., Henderson, J. F., and Seegmiller, J. E. (1967). A specific enzyme defect in gout associated with overproduction of uric acid. Proc. Natl. Acad. Sci. 571735.
Kelley, W. N., Levy, R. I., Rosenbloom, F. M., Henderson, J. F., and Seegmiller, J. E. (1968). Adenine phosphoribosyltransferase deficiency: A previously undescribed genetic defect in man. J. Clin. Invest. 472281.
Lowry, O. H., Rosebrough, N. J., Farr, A. L., and Randall, R. J. (1951). Protein measurement with the Folin phenol reagent. J. Biol. Chem. 193265.
Newcombe, D. S., and Willard, J. M. (1971). A spectrophotometric assay for hypoxanthineguanine phosphoribosyltransferase. Anal. Biochem. 43454.
Seegmiller, J. E., Rosenbloom, F. M., and Kelley, W. N. (1967). Enzyme defect associated with a sex-linked human neurological disorder with excessive purine synthesis. Science 1551682.
Author information
Authors and Affiliations
Additional information
This work was supported by the National Health and Medical Research Council of Australia.
Rights and permissions
About this article
Cite this article
Johnson, L.A., Gordon, R.B. & Emmerson, B.T. Adenine phosphoribosyltransferase: A simple spectrophotometric assay and the incidence of mutation in the normal population. Biochem Genet 15, 265–272 (1977). https://doi.org/10.1007/BF00484458
Received:
Revised:
Issue Date:
DOI: https://doi.org/10.1007/BF00484458