title: Hypoxanthine-guanine phosphoribosyltransferase deficiency: biochemical and molecular findings in six Argentine patients.
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.
authors: Centro de Estudio de las Metabolopatías Congénitas, Cátedra de Clínica Pediátrica, Facultad de Ciencias Médicas, Universidad Nacional de Córdoba, Hospital de Niños, Córdoba, Argentina. laurlarovere@hotmail.com
authors: L E
authors: LE
authors: Laróvere
authors: J P
authors: JP
authors: O'Neill
authors: M
authors: M
authors: Randall
authors: L D
authors: LD
authors: Fairbanks
authors: N
authors: N
authors: Guelbert
authors: L
authors: L
authors: Czornyj
authors: R Dodelson
authors: RD
authors: de Kremer
mesh_terms: D001118:Argentina; D003062:Codon; D004252:DNA Mutational Analysis; D005091:Exons; D005192:Family Health; D018095:Germ-Line Mutation; D006801:Humans; D033461:Hyperuricemia / Q000235:genetics*; D007041:Hypoxanthine Phosphoribosyltransferase / Q000172:deficiency*; D007926:Lesch-Nyhan Syndrome / Q000235:genetics*; D008661:Metabolism, Inborn Errors / Q000235:genetics*; D009154:Mutation; D009422:Nervous System Diseases / Q000235:genetics*; D010641:Phenotype
chemical_list: D003062:Codon; D007041:Hypoxanthine Phosphoribosyltransferase