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Up to: Inborn disorder of pyrimidine metabolism · Vitamin B12- and folate-independent constitutional megaloblastic anemia
Orotic aciduria
An extremely rare autosomal recessive inherited disorder caused by mutations in the UMPS gene. It is characterized by deficiency of the activity of the pyrimidine pathway enzyme uridine 5'-monophosphate (UMP) synthase. Clinical manifestations include growth retardation, anemia, and increased excretion of orotic acid in the urine.