Molybdenum cofactor deficiency: Review of 12 cases (MoCD and review)

被引：35

作者：

Bayram, Erhan ^{[1
]}

Topcu, Yasemin ^{[1
]}

Karakaya, Pakize ^{[1
]}

Yis, Uluc ^{[1
]}

Cakmakci, Handan ^{[2
]}

Ichida, Kimiyoshi ^{[3
]}

Kurul, Semra Hiz ^{[1
]}

机构：

[1] Dokuz Eylul Univ Hosp, Dept Pediat, Div Pediat Neurol, TR-35340 Izmir, Turkey

[2] Dokuz Eylul Univ Hosp, Dept Radiol, TR-35340 Izmir, Turkey

[3] Jikei Univ, Sch Med, Dept Internal Med, Div Kidney & Hypertens, Tokyo, Japan

来源：

EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY | 2013年 / 17卷 / 01期

关键词：

Molybdenum cofactor deficiency; Cystic encephalomalacia; Seizures; Feeding difficulty; Facial dysmorphism; Genes of molybdenum cofactor synthesis; MUTATION; FEATURES; BRAIN; ACID;

D O I：

10.1016/j.ejpn.2012.10.003

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Molybdenum cofactor deficiency is a rare inborn error of metabolism. The major clinical symptoms are intractable neonatal seizures, progressive encephalopathy, facial dysmorphic features and feeding difficulties. Most of the patients are misdiagnosed as hypoxic ischemic encephalopathy. The majority of patients have mutations in the MOCS1 and MOCS2 genes. Although the therapeutic treatment strategies have not been improved, genetic analysis is essential to elucidate the disease. Here, we report a review of 12 patients with Molybdenum cofactor deficiency reported from Turkey. (C) 2012 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.

引用

页码：1 / 6

页数：6

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