Nucleotide degradation products in cerebrospinal fluid (CSF) in inherited and acquired pathologies

L. D. Fairbanks, J. C. Harris, J. A. Duley, H. A. Simmonds

Research output: Contribution to journalArticle


CSF purines were grossly elevated compared with controls only in adenylosuccinate lyase (ADSL) deficiency and TB meningitis. The former representing low permeability, the latter severe damage to the normal blood/brain barrier. By contrast, the similarity to controls, with no difference between Lesch-Nyhan disease (LND) or LND variants, would exclude hypoxia as a factor in the severe neurological deficits in LND. Similar findings in purine nucleoside phosphorylase (PNP) deficiency (although nucleosides replace the normal bases) likewise exclude hypoxia in the aetiology of the albeit milder neurological deficits.

Original languageEnglish (US)
Pages (from-to)1185-1187
Number of pages3
JournalNucleosides, Nucleotides and Nucleic Acids
Issue number8-9
StatePublished - Dec 23 2004



  • Adenylosuccinase deficiency
  • CSF purines
  • Lesch-Nyhan disease
  • Phosphorylase deficiency
  • Purine nucleoside
  • TB meningitis

ASJC Scopus subject areas

  • Biochemistry
  • Molecular Medicine
  • Genetics

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