학술논문
Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency: Biochemical and Molecular Findings in Six Argentine Patients.
Document Type
Article
Author
Source
Subject
*LESCH-Nyhan syndrome
*HYPERURICEMIA
*URIC acid
*XANTHINE
*PATIENTS
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Language
ISSN
1525-7770
Abstract
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. [ABSTRACT FROM AUTHOR]