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Lesch-Nyhan syndrome

Disease definition

Lesch-Nyhan syndrome (LNS) is the most severe form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency (see this term), a hereditary disorder of purine metabolism, and is associated with uric acid overproduction (UAO), neurological troubles, and behavioral problems.

ORPHA:510

  • Synonym(s):
    • HPRT complete deficiency
    • HPRT deficiency grade IV
    • Hypoxanthine guanine phosphoribosyltransferase complete deficiency
    • Hypoxanthine guanine phosphoribosyltransferase deficiency, grade IV
  • Prevalence: 1-9 / 1 000 000
  • Inheritance: X-linked recessive 
  • Age of onset: Infancy
  • ICD-10: E79.1
  • OMIM: 300322  308950
  • UMLS: C0023374
  • MeSH: D007926
  • GARD: 7226
  • MedDRA: 10057589

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