Orotic aciduria type 1

How is orotic aciduria type I diagnosed?

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 UMPS gene is also available. A correct and timely diagnosis of OA1 is key to effective treatment for the condition.

Last updated on 05-01-20

Organizations Providing General Support

National Anemia Action Council

National Anemia Action Council, Inc.
555 E Wells St, Suite 1100
Milwaukee, WI 53202
Telephone: 414-225-0138
Fax: 414-276-3349
Ask the expert: http://www.anemia.org/professionals/asktheexpert/browse.php
Web site: http://www.anemia.org/

Last updated on 04-27-20

Name: Human Growth Foundation 997 Glen Cove Avenue, Suite 5
Glen Head, NY, 11545, United States
Toll Free: 1-800-451-6434 Fax : 516-671-4055 Email: hgf1@hgfound.org Url: http://www.hgfound.org/
Name: Restricted Growth Association P.O. Box 4744 Dorchester
Dorset, Intl DT2 9FA
United Kingdom
Phone: 01308 898445 Fax : 01308 898445 Url: http://www.restrictedgrowth.co.uk

Note, these links are external searches against the National Laboratory of Medicine's drug database. You may need to adjust the search if there are no results found.

Drug Name Generic Name
Xuriden uridine triacetate

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