Article
Hypoxanthine-guanine phosphoribosylotransferase deficiency--the spectrum of Polish mutations.
Journal of inherited metabolic disease - 1 Dec 2008
Jurecka A, Popowska E, Tylki-Szymanska A, Kubalska J, Ciara E, Krumina Z, Sykut-Cegielska J, Pronicka E
Abstract excerpt
Hypoxanthine-guanine phosphoribosyltransferase (HPRT; EC 2.4.2.8) deficiency (OMIM 308000) is an inborn error of purine metabolism. The defect causes three overlapping clinical syndromes: Lesch-Nyhan disease (LND; OMIM 300322), HPRT-related hyperuricaemia with neurologic dysfunction (HRND) and hyperuricaemia alone (HRH; OMIM 300322). During the period 1977-2007, 18 patients belonging to 12 Polish families and one...
Topics
- DNA Mutational Analysis
- Female
- Genetic Predisposition to Disease
- Humans
- Hypoxanthine Phosphoribosyltransferase
- Latvia
- Lesch-Nyhan Syndrome
- Male
- Mutation
- Phenotype
- Poland