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Diseases

Genetic and Rare Diseases Information Center (GARD)

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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
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Treatment

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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.


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