伴有癫痫且无巨幼细胞贫血的遗传性乳清酸尿症。
Hereditary orotic aciduria with epilepsy and without megaloblastic anemia.
作者信息
Grohmann Karina, Lauffer Heinz, Lauenstein Peter, Hoffmann Georg F, Seidlitz Günter
机构信息
Department of Neuropediatrics and Metabolic Diseases, University Children's Hospital Greifswald, Greifswald, Germany.
Center for Child and Adolescent Medicine, Division of Inherited Metabolic Diseases, University Hospital Heidelberg, Heidelberg, Germany.
出版信息
Neuropediatrics. 2015 Apr;46(2):123-5. doi: 10.1055/s-0035-1547341. Epub 2015 Mar 10.
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.
遗传性乳清酸尿症是一种罕见的代谢性疾病，由尿苷-5-单磷酸合酶（UMPS）缺陷引起。在受影响的患者中，主要临床症状是乳清酸尿排泄显著增加并伴有巨幼细胞贫血。本报告描述了一例无巨幼细胞贫血但患有癫痫的UMPS缺乏症新病例。
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