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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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.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
Last updated: 4/2/2012
- 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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- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Online Mendelian Inheritance in Man (OMIM) is a 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.