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Neuropediatrics 2015; 46(02): 123-125
DOI: 10.1055/s-0035-1547341
Short Communication
Georg Thieme Verlag KG Stuttgart · New York

Hereditary Orotic Aciduria with Epilepsy and without Megaloblastic Anemia

Karina Grohmann
1   Department of Neuropediatrics and Metabolic Diseases, University Children's Hospital Greifswald, Greifswald, Germany
2   Center for Child and Adolescent Medicine, Division of Inherited Metabolic Diseases, University Hospital Heidelberg, Heidelberg, Germany
,
Heinz Lauffer
1   Department of Neuropediatrics and Metabolic Diseases, University Children's Hospital Greifswald, Greifswald, Germany
,
Peter Lauenstein
1   Department of Neuropediatrics and Metabolic Diseases, University Children's Hospital Greifswald, Greifswald, Germany
,
Georg F. Hoffmann
2   Center for Child and Adolescent Medicine, Division of Inherited Metabolic Diseases, University Hospital Heidelberg, Heidelberg, Germany
,
Günter Seidlitz
1   Department of Neuropediatrics and Metabolic Diseases, University Children's Hospital Greifswald, Greifswald, Germany
› Author Affiliations
Further Information

Publication History

13 November 2013

03 January 2015

Publication Date:
10 March 2015 (online)

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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
 

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