Lesch-Nyhan disease and its variants: phenotypic and mutation spectrum of hypoxanthine-guanine phosphoribosyltransferase deficiency in Argentine patients

LE LARÓVERE; L.D. FAIRBANKS; H. A. JINNAH; N GUELBERT; E ESCUDERO ; A BECERRA ; R DODELSON DE KREMER

Journal of Inborn Errors of Metabolism and Screening

Scielo

Año: 2021

ypoxanthine-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) and HPRT-related hyperuricemia (HRH). The objective of this study was to characterize a cohort of Argentine patients with HPRT deficiency diagnosed in a single center. Results: Twenty nine patients were studied, including 12 LND, 15 HND and 2 HRH. The average onset age was 0.64 years for LND with motor delay as the main manifestation, 8.84 years for HND and 2.5 years for HRH; nephrological manifestations predominated as presenting features in these variants. The average diagnosis age was 3.58 years for LND, 17.21 years for HND and 2.5 years for HRH. Clinical heterogeneity was more evident in HND, even in members of the same family. All patients presented hyperuricemia and no detectable HPRT activity in erythrocyte lysate. The molecular study allowed to identify 9 diffe