Xanthinuria and Hemochromatosis
- 2 January 1964
- journal article
- research article
- Published by Massachusetts Medical Society in New England Journal of Medicine
- Vol. 270 (1) , 18-22
- https://doi.org/10.1056/nejm196401022700104
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 . . .Keywords
This publication has 19 references indexed in Scilit:
- XanthinuriaBMJ, 1959
- Mechanism of Release of Ferritin Iron In Vivo by Xanthine Oxidase1Journal of Clinical Investigation, 1958
- THE PURINE BASES OF HUMAN URINEJournal of Biological Chemistry, 1957
- IDIOPATHIC HEMOCHROMATOSIS, AN IRON STORAGE DISEASEMedicine, 1955
- Enzymic Determination of Hypoxanthine and Xanthine in Human Plasma and Urine.Acta Pharmacologica et Toxicologica, 1955
- On Accumulation of Hypoxanthine plus Xanthine in Withdrawn Human Blood.Acta Pharmacologica et Toxicologica, 1955
- CLINICAL FEATURES, PATHOLOGY, AND THERAPY OF HEMOCHROMATOSISJAMA, 1955
- XANTHINURIAThe Lancet, 1954
- Enzymatic Determination of Uric Acid with Detailed DirectionsScandinavian Journal of Clinical and Laboratory Investigation, 1953
- HEMOCHROMATOSISA.M.A. Archives of Internal Medicine, 1951