Orotic aciduria
| Orotic aciduria | |
|---|---|
| Other names | Orotidylic pyrophosphorylase and orotidylic decarboxylase deficiency; Uridine monophosphate synthase (UMPS) deficiency |
| 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 |
| 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.
Orotic aciduria patients lack the enzyme known as UMP synthase. Orotic aciduria is characterized by excessive excretion of orotic acid in urine because of the inability to convert orotic acid to UMP. It causes megaloblastic anemia and may be associated with mental and physical developmental delays.
Orotic aciduria is a rare disease. Fewer than 30 cases in human history have been reported in literature.