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abstractpubmed· Abstract 2015· item PMID:25757096
Hereditary orotic aciduria with epilepsy and without megaloblastic anemia. 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.