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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
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Overview

What is orotic aciduria type I?

How is orotic aciduria type I diagnosed?

What treatments are available for orotic aciduria type I?

What is orotic aciduria type I?

Orotic aciduria type I, also known as hereditary orotic aciduria, is a condition that occurs when the body cannot make a compound called UMP synthetase, which is an important enzyme that produces the chemicals that make up DNA.  The main symptoms of this disease are megaloblastic anemia, as well as delays in physical and intellectual development.  Orotic aciduria is caused by inherited changes (mutations) in the UMPS gene.  Treatment consists of taking supplements of a compound called uridine.[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

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.
  2. 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
  • 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.