Hereditary Orotic Aciduria with Epilepsy and without Megaloblastic Anemia

Abstract

Hereditary orotic aciduria is a rare metabolic disease that results from a defect of uridine-5-monophosphate synthase (UMPS). In affected patients, main clinical symptoms are a markedly increased urinary excretion of orotic acid combined with megaloblastic anemia. This report describes a new case of UMPS deficiency without megaloblastic anemia but with epilepsy.

Keywords

hereditary orotic aciduria - UMPS-deficiency - epilepsy

• References

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