...
  • 主题
高级搜索  >
历史搜索 清空历史
首页> 外文期刊>Brain & Development >Early infantile presentation of 3-methylglutaconic aciduria type 1 with a novel mutation in AUH gene: A case report and literature review
【24h】

Early infantile presentation of 3-methylglutaconic aciduria type 1 with a novel mutation in AUH gene: A case report and literature review

机译：3-甲基戊康酸尿尿患有1型具有新型突变的早期幼儿介绍，AUH基因突变：案例报告和文献综述

获取原文
获取原文并翻译 | 示例
           
页面导航
  • 摘要
  • 著录项
  • 相似文献
  • 相关主题

摘要

3-Methylglutaconic aciduria is a member of inborn errors of leucine metabolism pathway. 3-Methylglutaconic aciduria type I (MGA1) causes neurological problems which are present during infancy or childhood but the diagnosis may be delayed until adulthood. Here we report a 3 years old patient with developmental delay from a relative parent's that his medical evaluations include analyses of urinary organic acid and blood acylcarnitine showed high level of 3-methylglutacoic acid, 3-hydroxyisovaleric acid and increased level of 3-hydroxyisovalerylcarnitine respectively. Further evaluation and genetic tests revealed a novel homozygous mutation of variant c.179de1 G (p.Gly60Valfs*12) in exon 1 of the AUH gene that was compatible with the diagnosis of MGM. In segregation analysis of his family, both parents were heterozygous for the respective mutation, confirming obligate parental carrier status and segregation of the mutation. (C) 2017 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.
机译：3-甲基戊康氏尿是亮氨酸新陈代谢途径的原始误差的成员。 3-甲基戊酸尿尿尿尿蛋白I（MGA1）引起婴儿期或儿童期间存在的神经病学问题，但诊断可能延迟至成年期。在这里，我们报告了3岁的患者，来自相对父母的发育延迟，即他的医学评估包括分析尿有机酸和血液酰基碱表现出高水平的3-甲基乙酸，3-羟基甲酸和增加水平的3-羟基戊酸钙碱。进一步的评估和遗传检测揭示了在AUH基因的外显子1中的变体C.179de1g（p.gly60Valfs * 12）的新型纯合突变。与MGM的诊断相容。在他的家庭的分离分析中，父母双方都是对各自的突变的杂合子，确认迫使蛋白生物载体状态和突变的偏析。 （c）2017年日本儿童神经病学会。 elsevier b.v出版。保留所有权利。

著录项

相似文献

  • 外文文献
  • 中文文献
  • 专利
获取原文

客服邮箱：kefu@zhangqiaokeyan.com

京公网安备：11010802029741号 ICP备案号：京ICP备15016152号-6 六维联合信息科技 (北京) 有限公司©版权所有

  • 客服微信

  • 服务号