Nucleotide degradation products in cerebrospinal fluid (CSF) in inherited and acquired pathologies.
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.
Fairbanks
L D
LD
Purine Research Unit, Guy's Hospital, London, UK.
Harris
J C
JC
Duley
J A
JA
Simmonds
H A
HA
D000264:Adenylosuccinate Lyase / Q000172:deficiency* / Q000235:genetics; D000293:Adolescent; D000328:Adult; D000368:Aged; D001812:Blood-Brain Barrier; D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D000860:Hypoxia; D007231:Infant, Newborn; D007926:Lesch-Nyhan Syndrome / Q000134:cerebrospinal fluid; D008297:Male; D009711:Nucleotides / Q000134:cerebrospinal fluid*; D011683:Purine-Nucleoside Phosphorylase / Q000172:deficiency; D011687:Purines / Q000737:chemistry; D013997:Time Factors; D014390:Tuberculosis, Meningeal / Q000134:cerebrospinal fluid; D014527:Uric Acid / Q000097:blood / Q000378:metabolism
D009711:Nucleotides; D011687:Purines; D014527:Uric Acid; D011683:Purine-Nucleoside Phosphorylase; D000264:Adenylosuccinate Lyase