Abstract | BACKGROUND: METHODS: RESULTS: Mean plasma urate concentrations and 24-h urinary hypoxanthine, xanthine and uric acid excretion rates were significantly higher in 22 heterozygotes than in 13 non-carriers (P < 0.02). Daily urinary oxypurine excretion rates were also significantly higher in heterozygotes than in 12 normal women (P = 0.0011). Cumulative 5-day radioactivity excretion after [8-14C]- adenine infusion was markedly increased in 10 carrier women compared with five normal women (P = 0.0369). The sensitivity of 24-h urinary hypoxanthine and xanthine excretion rates was 86% and 77%, respectively, and the specificity 100% for both tests. CONCLUSION: Female heterozygotes for HPRT deficiency show an enhanced purine nucleotide degradation and purine overproduction. An elevated hypoxanthine and/or xanthine excretion rate differentiated most heterozygotes for HPRT deficiency from non-carrier women and thus could be useful for carrier diagnosis.
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Authors | J G Puig, F A Mateos, R J Torres, A S Buño |
Journal | European journal of clinical investigation
(Eur J Clin Invest)
Vol. 28
Issue 11
Pg. 950-7
(Nov 1998)
ISSN: 0014-2972 [Print] England |
PMID | 9824441
(Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
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Chemical References |
- Purines
- Xanthine
- Hypoxanthine
- Hypoxanthine Phosphoribosyltransferase
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Topics |
- Adolescent
- Adult
- Aged
- Case-Control Studies
- Female
- Heterozygote
- Humans
- Hypoxanthine
(urine)
- Hypoxanthine Phosphoribosyltransferase
(deficiency, genetics)
- Lesch-Nyhan Syndrome
(enzymology, genetics, metabolism)
- Male
- Middle Aged
- Purines
(metabolism)
- Spain
- Xanthine
(urine)
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