Producción CyT
Hypoxanthine-guanine phosphoribosyltransferase deficiency: biochemical and molecular findings in six Argentine patients
Articulo
Autoría:
LARÓVERE, LAURA ELENA ; JP ONeill ; M Randall ; LD Fairbanks ; N Guelbert ; L Czornyj ; R Dodelson de KremerFecha:
2007Editorial y Lugar de Edición:
TAYLOR & FRANCIS INCRevista:
NUCLEOSIDES, NUCLEOTIDES AND NUCLEIC ACIDS, vol. 26 (pp. 255-258) TAYLOR & FRANCIS INCResumen *
Hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency is an inborn error of purine metabolism responsible for Lesch-Nyhan Disease (LND) and its partial phenotypes, HPRTrelated 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. Información suministrada por el agente en SIGEVAPalabras Clave
HYPOXANTHINE-GUANINE PHOSPHORIBOSYLTRANSFERASE DEFICIENCYHPRTLESCH-NYHAN VARIANTLESCH-NYHAN DISEASE