Allopurinol challenge test for diagnosis of ornithine transcarbamylase deficiency

概要

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The allopurinol challenge test has been proposed as a test for diagnosing patients and heterozygotes of ornithine transcarbamylase (OTC) deficiency. But there are a few reports about Japanese.<BR>We performed the test on one Japanese patient with OTC deficiency and one patient with hyperammonaemia. Orotidine and orotic acid in the urine from OTC deficiency extremely increased. Those from the patient with hyperammoneamia did not increased, in the result the patient seemed not to be OTC deficiency.<BR>We also performed the tests on five Japanese families with OTC deficiency (8 males and 10females). Four mothers and one aunt were suspected as heterozygotes of OTC deficiency, as the results of increased orotidine and orotic acid. And we found out that urinary uracil tended to increase whether orotidine and orotic acid increased or not.
Japanese Society of Gout and Nucleic Acid Metabolismの論文