Lesch-Nyhan syndrome: a novel complex mutation with severe phenotype

Clin Genet. 2010 Sep;78(3):296-7. doi: 10.1111/j.1399-0004.2010.01428.x.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Allopurinol / therapeutic use
  • Antimetabolites / therapeutic use
  • Fatal Outcome
  • Humans
  • Hypoxanthine Phosphoribosyltransferase / deficiency
  • Hypoxanthine Phosphoribosyltransferase / genetics*
  • Infant
  • Lesch-Nyhan Syndrome / drug therapy
  • Lesch-Nyhan Syndrome / enzymology
  • Lesch-Nyhan Syndrome / genetics*
  • Male
  • Mutation*
  • Phenotype
  • Uric Acid / blood

Substances

  • Antimetabolites
  • Uric Acid
  • Allopurinol
  • Hypoxanthine Phosphoribosyltransferase