Hereditary Orotic Aciduria with Epilepsy and without Megaloblastic Anemia

被引：16

作者：

Grohmann, Karina ^{[1
,2
]}

Lauffer, Heinz ^{[1
]}

Lauenstein, Peter ^{[1
]}

Hoffmann, Georg F. ^{[2
]}

Seidlitz, Guenter ^{[1
]}

机构：

[1] Univ Childrens Hosp Greifswald, Dept Neuropediat & Metab Dis, Greifswald, Germany

[2] Univ Heidelberg Hosp, Div Inherited Metab Dis, Ctr Child & Adolescent Med, D-69120 Heidelberg, Germany

来源：

NEUROPEDIATRICS | 2015年 / 46卷 / 02期

关键词：

hereditary orotic aciduria; UMPS-deficiency; epilepsy; URIDINE;

D O I：

10.1055/s-0035-1547341

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

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.

引用

页码：123 / 125

页数：3

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