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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 . 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.
Two types of orotic aciduria have been reported. Type I has a severe deficiency of both activities of UMP synthase. In Type II orotic aciduria, the ODC activity is deficient while OPRT activity is elevated. As of 1988, only one case of type II orotic aciduria had ever been reported.
Orotic aciduria is associated with megaloblastic anemia due to decreased pyrimidine synthesis, which leads to decreased nucleotide-lipid cofactors needed for erythrocyte membrane synthesis in the bone marrow.
Orotic aciduria can be diagnosed through genetic sequencing of the UMPS gene.
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