title: 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.
authors.affiliation: Department of Neuropediatrics and Metabolic Diseases, University Children's Hospital Greifswald, Greifswald, Germany.
authors.forename: Karina
authors.initials: K
authors.lastname: Grohmann
authors.affiliation: Department of Neuropediatrics and Metabolic Diseases, University Children's Hospital Greifswald, Greifswald, Germany.
authors.forename: Heinz
authors.initials: H
authors.lastname: Lauffer
authors.affiliation: Department of Neuropediatrics and Metabolic Diseases, University Children's Hospital Greifswald, Greifswald, Germany.
authors.forename: Peter
authors.initials: P
authors.lastname: Lauenstein
authors.affiliation: Center for Child and Adolescent Medicine, Division of Inherited Metabolic Diseases, University Hospital Heidelberg, Heidelberg, Germany.
authors.forename: Georg F
authors.initials: GF
authors.lastname: Hoffmann
authors.affiliation: Department of Neuropediatrics and Metabolic Diseases, University Children's Hospital Greifswald, Greifswald, Germany.
authors.forename: Günter
authors.initials: G
authors.lastname: Seidlitz
mesh_terms: D000749:Anemia, Megaloblastic / Q000150:complications* / Q000378:metabolism; D002675:Child, Preschool; D004827:Epilepsy / Q000150:complications* / Q000378:metabolism; D006801:Humans; D008297:Male; D008659:Metabolic Diseases / Q000150:complications* / Q000235:genetics; D009097:Multienzyme Complexes / Q000172:deficiency*; D009962:Orotate Phosphoribosyltransferase / Q000172:deficiency*; D009963:Orotic Acid / Q000378:metabolism*; D009964:Orotidine-5'-Phosphate Decarboxylase / Q000172:deficiency*
chemical_list: D009097:Multienzyme Complexes; D009963:Orotic Acid; C027157:uridine 5'-monophosphate synthase; D009962:Orotate Phosphoribosyltransferase; D009964:Orotidine-5'-Phosphate Decarboxylase