Neurocognitive functioning in Lesch-Nyhan disease and partial hypoxanthine-guanine phosphoribosyltransferase deficiency

David J. Schretlen, James C. Harris, Karen S. Park, Hyder A. Jinnah, Natalia Ojeda Del Pozo

Research output: Contribution to journalArticlepeer-review

43 Scopus citations


Lesch-Nyhan disease (LND) is a rare, X-linked genetic disorder that involves the nearly complete absence of an enzyme (hypoxanthine-guanine phosphoribosyltransferase, or HPRT) that is essential for purine salvage. In addition to hyperuricemia, all patients with classic LND suffer from movement disorder and compulsive self-injury, and most have mental retardation. Patients with partial HPRT deficiency (variants) always have hyperuricemia and often have neurologic abnormalities, but do not self-injure and usually are described as having normal intelligence. Here we compare 15 patients with LND to 9 variants and 13 normal adolescents and adults. Testing revealed unambiguous and qualitatively similar cognitive deficits in both patient groups. The variants produced scores that were intermediate between those of patients with LND and normal participants on nearly every cognitive measure. We discuss these findings in terms of what is known about the neuropathology of LND.

Original languageEnglish (US)
Pages (from-to)805-812
Number of pages8
JournalJournal of the International Neuropsychological Society
Issue number7
StatePublished - 2001


  • Cognition
  • Hypoxanthine-guanine phosphoribosyltransferase deficiency
  • Lesch-Nyhan disease
  • Mental retardation

ASJC Scopus subject areas

  • Neuroscience(all)
  • Clinical Psychology
  • Clinical Neurology
  • Psychiatry and Mental health


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