Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency: Biochemical and Molecular Findings in Six Argentine Patients

Hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency is an inborn error of purine metabolism responsible for Lesch-Nyhan Disease (LND) and its partial phenotypes, HPRT-related hyperuricemia with neurologic dysfunction (HRND) and hyperuricemia alone. We report here the recognition of six...

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Published inNucleosides, nucleotides & nucleic acids Vol. 26; no. 3; pp. 255 - 258
Main Authors Laróvere, L. E., O'Neill, J. P., Randall, M., Fairbanks, L. D., Guelbert, N., Czornyj, L., de Kremer, R. Dodelson
Format Journal Article
LanguageEnglish
Published United States Taylor & Francis Group 01.01.2007
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Summary:Hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency is an inborn error of purine metabolism responsible for Lesch-Nyhan Disease (LND) and its partial phenotypes, HPRT-related hyperuricemia with neurologic dysfunction (HRND) and hyperuricemia alone. We report here the recognition of six Argentine patients, two with LND and four with HRND. All patients presented elevated excretion of uric acid, hypoxanthine, and xanthine and decreased HPRT enzyme activities <1 nmol/h/mg Hb. The molecular analysis demonstrated in the two LND patients a novel inherited transition mutation, c.203T >C (L68P), in one subject and a germline transition mutation, c.209G >A (G70E), in the other. In the HRND patients a novel transversion mutation, c.584 A >C (Y195S), was found in three related patients and an inherited transition mutation, c.143G >A (R48H), in the fourth subject.
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ISSN:1525-7770
1532-2335
DOI:10.1080/15257770701257269