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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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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

References
  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. http://www.ncbi.nlm.nih.gov/pubmed/9086295. Accessed 4/2/2012.


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.