Orotic aciduria type I (OA1) is diagnosed by a urine test that reveals very high amounts of orotic acid, with milder elevations of orotidine. The respective amounts of these substances result in an OA/orotidine ratio of above 10.Genetic testing of the UMPSgene is also available. A correct and timely diagnosis of OA1 is key to effective treatment for the condition.
Last updated: 9/13/2017
We hope this information is helpful. We strongly recommend you discuss this information with your doctor. If you still have questions, please