Separation and quantitation of oxypurines by isocratic high-pressure liquid chromatography: application to xanthinuria and the Lesch-Nyhan syndrome.

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An isocratic HPLC technique has been developed for the separation and measurement of urine and plasma oxypurines in a patient with xanthinuria . The case history and laboratory data are presented . Xanthine excretion was 172 mg /g creatinine and hypoxanthine was 45 mg /g creatinine . Uric acid was too small to be measured but uricase determination showed only 3 mg /24 hr . Serum oxypurine analysis showed hypoxanthine 0 .87 mg /dl and xanthine 0 .35 mg /dl . Uric acid was not seen in this patient 's serum but could be readily measured in normal control subjects . The technique can also be used to separate nucleotides from purine bases , and we have demonstrated its application to the measurement of erythrocyte hypoxanthine guanine phosphoribosyl transferase and adenine phosphoribosyl transferase in a kindred associated with the Lesch-Nyhan syndrome .