Hereditary Orotic Aciduria with Epilepsy and without Megaloblastic Anemia

    loading  Checking for direct PDF access through Ovid

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.

Related Topics

    loading  Loading Related Articles