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
Orotic aciduria type I is treated by taking supplements of the compound uridine. Affected individuals who take uridine show significant improvement in symptoms.
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.
- Finding Treatment Information - A video developed by GARD Information Specialists that explains how you can find information about treatment for a rare disease.