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Diseases

Genetic and Rare Diseases Information Center (GARD)

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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Treatment

Newline Maker

What treatments are available for orotic aciduria type I?

Orotic aciduria type I is treated by taking supplements of the compound uridine.  Affected individuals who take uridine show significant improvement in symptoms.[1]
Last updated: 4/2/2012

References
  1. 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.


Medical Products

The medication(s) listed in the table(s) below have been approved by the Food and Drug Administration (FDA) for treatment of this condition. The FDA Office of Orphan Products Development designates "orphan products" for those that treat rare diseases affecting fewer than 200,000 Americans. The table(s) below may not be an exhaustive list of drugs or products used to treat this condition. There may be other products available that are not considered orphan products. To search for all FDA approved drugs, visit Drugs@FDA. You can find orphan products used to treat other conditions by searching the Orphan Drug Product Designation database.


Generic Name Uridine triacetate
Trade Name
(Manufacturer Name)
Uridine triacetate
(Wellstat Therapeutics, Inc.)
Indication
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

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
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.