Orotic aciduria
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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]
Quick Facts Other names, Specialty ...
Orotic aciduria | |
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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 |
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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.