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
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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