Abstract
We investigated the effect of allopurinol on CSF purines in 3 Lesch-Nyhan Syndrome (LNS) patients and in one patient with severe partial HGPRT deficiency (Kelley-Seegmiller Syndrome [KSS]). Control spinal fluid hypoxanthine is 7.5 ± 2.0 μM and xanthine is 5.1 ± 2.2 μM. The 3 LNS subjects and the 1 KSS patient had high hypoxanthine levels, 15, 34, 35, and 24 μM, while off allopurinol. Initiation of the allopurinol resulted in a rise in hypoxanthine levels to 58, 50, 50 and 42 μM, respectively. Changes in CSF xanthine and uric acid during allopurinol therapy showed no consistent changes. Xanthine decreased in one LNS patient, slightly increased in another and markedly increased in the third LNS and the KSS patients. CSF uric acid increased in 2 and decreased in 2 while on allopurinol. No allopurinol was detected by high performance liquid chromatography in the CSF but low concentrations of oxypurinol (6-34 μM) were found.
These studies suggest that allopurinol alters CSF oxypurine concentrations in both the "complete" and "partial" HGPRT deficiencies. We also observe that fluctuations in CSF purine levels do not correlate with changes in neurologic behavior in these syndromes.
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Edwards, N., Puig, J. & Mateos, F. THE EFFECT OF ALLOPURINOL ON CEREBRAL SPINAL FLUID (CSF) PURINES IN HYPOXANTHINE-GUANINE PHOSPHORIBOSYL TRANSFERASE DEFICIENCY SYNDROMES: 58. Pediatr Res 19, 753 (1985). https://doi.org/10.1203/00006450-198507000-00078
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DOI: https://doi.org/10.1203/00006450-198507000-00078