Lesch-Nyhan Disease and Its Variants: Phenotypic and Mutation Spectrum of Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency in Argentine Patients

Hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency is a disorder of purine metabolism responsible for Lesch-Nyhan Disease (LND) and its variants, HPRT-related hyperuricemia with neurologic dysfunction (HND) (HRH). The objective this study was to characterize cohort Argentine patients HPRT diagnosed in single center. Results: Twenty nine were studied, including 12 LND, 15 HND 2 HRH. average onset age 0.64 years LND motor delay as the main manifestation, 8.84 2.5 HRH; nephrological manifestations predominated presenting features these variants. diagnosis 3.58 17.21 Clinical heterogeneity more evident HND, even members same family. All presented no detectable activity erythrocyte lysate. molecular allowed identify 9 different mutations HPRT1 gene from 24 (11 independent pedigrees) establish genotype-phenotype correlation. In conclusion, describes genotypic/phenotypic spectrum highlights need increase awareness about suspicion diseases, especially variants high clinical heterogeneity.