TS'AI-FAN YÜ, M.D.; M. EARL BALIS, Ph.D.; THOMAS A. KRENITSKY, Ph.D.; JOSEPH DANOIS, M.D.; DAVID N. SILVERS, M.D.; GERTRUDE B. ELION, D.SC.; ALEXANDER B. GUTMAN, M.D., F.A.C.P.
In a survey of 425 cases of hyperuricemia with gouty arthritis or uric acid stone, or both, we found partial deficiency of H-G PRTase, a newly recognized cause of these manifestations, in only 7 subjects, of whom 5 were members of one family. The prevalence in this series was thus 1.6%, which is probably higher than in the gouty population at large because this study included a disproportionately large number of severely afflicted patients. Transmission was through heterozygous, asymptomatic mothers and was expressed only in sons, consistent with X-linkage. Six of the seven hemizygotes detected conformed to previous reports in having very low erythrocyte H-G PRTase activity (about 0.1% to 1% of normal) and increased urinary hypoxanthine to xanthine ratios, usually with relatively early onset of severe symptoms. In the seventh case erythrocyte H-G PRTase activity was about 30% of normal, with an accompanying increase in the urinary hypoxanthine to xanthine ratio. This patient had late onset of moderately severe recurrent gouty arthritis.
YÜ T, BALIS ME, KRENITSKY TA, et al. Rarity of X-Linked Partial Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency in a Large Gouty Population. Ann Intern Med. 1972;76:255–264. doi: https://doi.org/10.7326/0003-4819-76-2-255
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Published: Ann Intern Med. 1972;76(2):255-264.
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