Deficiency of hypoxanthine-guanine phosphoribosyltransferase (HPRT) activity is an inborn
error of purine metabolism associated with uric acid overproduction and a continuum …

Lesch–Nyhan disease (LND) is caused by deficiency of the purine salvage enzyme
hypoxanthine-guanine phosphoribosyltransferase (HPRT). Affected individuals exhibit over-…

Asymptomatic hyperuricaemia is defined as a serum urate concentration equal to or above
7.0 mg/dl with no symptoms or clinical signs. Most individuals with hyperuricaemia, however, …

We reviewed the clinical features and uric acid metabolism in 37 female patients with gout.
In 32 female patients (86%), gout was diagnosed after menopause. Among the five …

Lesch–Nyhan disease is a neurogenetic disorder caused by deficiency of the enzyme
hypoxanthine–guanine phosphoribosyltransferase. The classic form of the disease is described …

Consumption of alcohol causes hyperuricemia by decreasing urate excretion and increasing
its production. Our previous studies indicate that ethanol administration increases uric acid …

Establishing meaningful relationships between genetic variations and clinical disease is a
fundamental goal for all human genetic disorders. However, these genotype–phenotype …

The enzyme hypoxanthine-guanine phosphoribosyltransferase (EC 2.4. 2.8., HPRT) plays a
crucial role in uric acid synthesis and purine metabolism. This enzyme catalyzes the …

Self‐injury is a defining feature of Lesch–Nyhan disease (LND) but does not occur in the
less severely affected Lesch–Nyhan variants (LNV). The aim of this study was to quantify …

The metabolic syndrome (MS) is defined by the clustering of a number of cardiovascular risk
factors. The aims of the present study were to estimate the prevalence of MS in Madrid (…