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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Tests & Diagnosis
On this page
- Sevcík J, Adam T, Sázel V. A rapid and simple screening method for detection of orotic aciduria by capillary zone electrophoresis. Clinica Chimica Acta. 1997; 259:73-81. http://www.ncbi.nlm.nih.gov/pubmed/9086295. Accessed 4/2/2012.