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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
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]
References
- Nyhan WL. Disorders of purine and pyrimidine metabolism. Molecular Genetics and Metabolism. 2005. http://www.ncbi.nlm.nih.gov/pubmed/16176880. Accessed April 2, 2012.
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General Information
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge. Click on the link to read information on this topic.
- 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.
- The The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Orotic aciduria type 1. Click on the link to go to OMIM and review these resources.