Orotic aciduria type 1
Other Names for this Disease
- Orotidylic pyrophosphorylase and orotidylic decarboxylase deficiency
- UMPS deficiency
- Uridine monophosphate synthase deficiency
- UMP synthtase deficiency
- Orotate phosphoribosyltransferase and omp decarboxylase deficiency
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Orotic aciduria type I is treated by taking supplements of the compound uridine. Affected individuals who take uridine show significant improvement in symptoms.
Last updated: 4/2/2012
- Nyhan WL. Disorders of purine and pyrimidine metabolism. Molecular Genetics and Metabolism. 2005; 86:25-33. http://www.ncbi.nlm.nih.gov/pubmed/16176880. Accessed 4/2/2012.
- Finding Treatment Information - A video developed by GARD Information Specialists that explains how you can find information about treatment for a rare disease.
|Generic Name||Uridine triacetate|
(Wellstat Therapeutics, Inc.)
The FDA has approved this product to be used in this manner.
|Treatment of hereditary orotic aciduria.|
|More Information about this product||Drug Information Portal|