| Orotic aciduria | |
|---|---|
| Other names | Orotidylic pyrophosphorylase and orotidylic decarboxylase deficiency; Uridine monophosphate synthase (UMPS) deficiency[1] |
 | |
| Structure of orotic acid | |
| Specialty | Hematology  |
| Symptoms | Megaloblastic anemia; developmental delays |
| Causes | Autosomal recessive mutation of the UMPS gene |
| Differential diagnosis | Mitochondrial disorders; Lysinuric protein intolerance; liver disease[1] |
| Treatment | Uridine triacetate |
Orotic aciduria (AKA hereditary orotic aciduria) is a disease caused by an enzyme deficiency, resulting in a decreased ability to synthesize pyrimidines. It was the first described enzyme deficiency of the de novo pyrimidine synthesis pathway.[2]
Orotic aciduria is characterized by excessive excretion of orotic acid in urine because of the inability to convert orotic acid to UMP.[3][1] It causes megaloblastic anemia and may be associated with mental and physical developmental delays.
- ^ a b c "Orotic aciduria type 1". National Center for Advancing Translational Sciences. 13 Sep 2017. Retrieved 8 May 2018.
- ^ Cite error: The named reference
Winklerwas invoked but never defined (see the help page). - ^ Tao, Le (2017-01-02). First aid for the USMLE step 1 2017 : a student-to-student guide. Bhushan, Vikas,, Sochat, Matthew,, Kallianos, Kimberly,, Chavda, Yash,, Zureick, Andrew H. (Andrew Harrison), 1991-, Kalani, Mehboob. New York. ISBN 9781259837630. OCLC 948547794.
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