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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
More Names
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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

  1. Nyhan WL. Disorders of purine and pyrimidine metabolism. Molecular Genetics and Metabolism. 2005; 86:25-33. Accessed 4/2/2012.