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Biochemical Measurement of Neonatal Hypoxia
Published on: August 24, 2011
Two siblings with classical xanthinuria type 1: significance of allopurinol loading test
K Ichida1, M Yoshida, R Sakuma
1Second Department of Internal Medicine, the Jikei University School of Medicine, Tokyo.
Abstract:
Two brothers with classical xanthinuria who lacked xanthine dehydrogenase activity were encountered. Their hypouricemia was caused by underproduction of uric acid. In their duodenal mucosa, no xanthine dehydrogenase (oxidase) activity was detected. The patients had no symptoms except for duodenal ulcer in one case. The conversion of allopurinol to oxipurinol during an allopurinol loading test for determining the type of classical xanthinuria revealed that the patients had classical type 1 xanthinuria, because aldehyde oxidase activity was present. Furthermore, the allopurinol loading test was conducted to determine the optimal examination times and specimens required for this test.
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