Diagnosis and Treatment of the Lesch-Nyhan Syndrome

Pediatr Res. 1972 May;6(5):504-13. doi: 10.1203/00006450-197205000-00004.

Publication types

  • Review

MeSH terms

  • Allopurinol / therapeutic use
  • Amniocentesis
  • Athetosis*
  • Brain / enzymology
  • Brain / metabolism
  • Erythrocytes / enzymology
  • Fibroblasts / enzymology
  • Humans
  • Intellectual Disability*
  • Lesch-Nyhan Syndrome / diagnosis
  • Lesch-Nyhan Syndrome / drug therapy
  • Lesch-Nyhan Syndrome / enzymology
  • Male
  • Pentosyltransferases / metabolism
  • Purine-Pyrimidine Metabolism, Inborn Errors*
  • Self Mutilation*
  • Uric Acid / biosynthesis
  • Uric Acid / urine

Substances

  • Uric Acid
  • Allopurinol
  • Pentosyltransferases