Xanthinuria and Hemochromatosis

Abstract

IN 1954 Dent and Philpot¹ presented an account of xanthinuria observed in a four-year-old girl. She had only traces of uric acid in the blood and urine. Urinary excretion of purines consisted mainly of xanthine, the immediate metabolic precursor of uric acid. The xanthine was excreted in amounts comparable, mole for mole, to that of the expected normal uric acid excretion. The authors postulated that the defect was either a deficiency of liver xanthine oxidase or a renal tubular defect with greatly increased renal tubular clearance of xanthine. In 1959 the same patient was reinvestigated by Dickinson and Smellie,² who . . .