… Clearly, there is considerable genetic heterogeneity at the HGPRT locus and a certain
amount occurs in patients who have the classic Lesch-Nyhan syndrome. Further hetero geneity …

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

The Lesch-Nyhan syndrome is a heritable disorder of the metabolism of uric acid in which
behavioral manifestations are prominent and among the most provocative. The mutated or …

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

… 1969, Sweetman and Nyhan 1972). This is the way we have defined Lesch-Nyhan disease,
but the clinical phenotype or Lesch-Nyhan syndrome may be caused by other variants of the …

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

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 …

A syndrome consisting of hyperuricema, mental retardation, choreoathetosis and self-destructive
biting has been described in two brothers aged five and eight years. The uric acid pools …

The first description of Lesch-Nyhan disease was in 1964; the first two patients were seen in
1963. The disease has caught the imagination of a variety of clinicians and scientists. The …

Lesch-Nyhan syndrome is characterized clinically by mental retardation, choreoathetosis,
spastic cerebral palsy, and aggressive, self-mutilating behavior. It is transmitted as an X-linked …