Familial Xanthinuria in a Large Kindred: Purine Metabolites in Plasma and Urine of Xanthinurics, Siblings and Normal Subjects
Xanthinuria is a rare hereditary defect where there is a gross deficiency of the enzyme xanthine oxidase. This results in hypo-uricemia, hypouricosuria and increased serum and urinary xanthine and hypoxanthine. More than forty cases have now been reported in the literature1,2 and these have recently been reviewed2. We report a further 3 cases of xanthinuria, 2 brothers and a sister. The discovery of a case of familial xanthinuria provided a unique opportunity to study purine metabolism in the patients, their parents and siblings.
KeywordsUric Acid Urinary Oxalate Oxalate Excretion Clearance Ratio Urinary Oxalate Excretion
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- 1.R. A. Frayha, I. S. Salti, A. Arnaout, A. Khatchadurian, and S. M. Uthman, Nephrol. 19:328 (1977).Google Scholar
- 2.J. E. Seegmiller, in: “Metabolic Control and Disease”, P. K. Bondy and L. E. Rosenberg, eds., W. B. Saunders, Philadelphia (1980).Google Scholar
- 8.H. J. Castro-Mendoza, L. Cifuentes Delatte, and A. Rapado Errazti, Rev. Clin. Esp. 124:341 (1972).Google Scholar