Your browser does not support javascript:   Search for gard hereSearch for news-and-events here.


Genetic and Rare Diseases Information Center (GARD)

Print friendly version

Orotic aciduria type 1

Other Names for this Disease
  • Hereditary orotic aciduria
  • Orotate phosphoribosyltransferase and omp decarboxylase deficiency
  • Orotic aciduria II (formerly)
  • Oroticaciduria 1
  • Orotidylic pyrophosphorylase and orotidylic decarboxylase deficiency
More Names
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Your Question

How is orotic aciduria type I diagnosed?  How is it treated?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

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

How is orotic aciduria type I diagnosed?

Orotic aciduria type I is diagnosed by a urine test to measure the amount of a compound called orotic acid; the urine of affected individuals has very high amounts of orotic acid.[2]
Last updated: 4/2/2012