Hypoxanthine-guanine phosphoribosyltransferase deficiency: biochemical and molecular findings in six Argentine patients

LE LARÓVERE; JP ONEILL; M RANDALL; LD FAIRBANKS; N GUELBERT; L CZORNYJ; R DODELSON DE KREMER

TAYLOR & FRANCIS INC

Año: 2007 vol. 26 p. 255 - 255

ypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency is an inborn error ofpurine metabolism responsible for Lesch-Nyhan Disease (LND) and its partial phenotypes, HPRTrelatedhyperuricemia with neurologic dysfunction (HRND) and hyperuricemia alone. We reporthere the recognition of six Argentine patients, two with LND and four with HRND. All patientspresented elevated excretion of uric acid, hypoxanthine, and xanthine and decreased HPRT enzymeactivities <1 nmol/h/mg Hb. The molecular analysis demonstrated in the two LND patients anovel inherited transition mutation, c.203T >C (L68P), in one subject and a germline transitionmutation, 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.