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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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Tests & Diagnosis

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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.[1]
Last updated: 4/2/2012

  1. Sevcík J, Adam T, Sázel V. A rapid and simple screening method for detection of orotic aciduria by capillary zone electrophoresis. Clinica Chimica Acta. 1997; 259:73-81. Accessed 4/2/2012.