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.
YÜ T, BALIS ME, KRENITSKY TA, DANOIS J, SILVERS DN, ELION GB, et al. Rarity of X-Linked Partial Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency in a Large Gouty Population. Ann Intern Med. 1972;76:255-264. doi: 10.7326/0003-4819-76-2-255
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Published: Ann Intern Med. 1972;76(2):255-264.
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.
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Print ISSN: 0003-4819 | Online ISSN: 1539-3704
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