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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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Overview


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

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.
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In Depth Information

  • The Online Mendelian Inheritance in Man (OMIM) is an catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Orotic aciduria type 1. Click on the link to view a sample search on this topic.