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多种酰基辅酶A脱氢酶缺乏症1例病例报告 被引量：1

A case report of multiple acyl-CoA dehydrogenase defciency
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摘要 1病例资料男,14d,因新生儿疾病筛查肉碱异常入青岛市妇女儿童医院就诊。患儿系G2P2,胎龄41周,出生体重3350g,Apgar评分10分。父母体健、非近亲结婚,母亲孕期产检未发现异常。有一胞兄16岁,体健,智力及体格发育正常。母亲自述自己有一胞妹8岁因病去世,病因未明。体格检查:体重3490g,身长48cm,头围30cm,营养发育良好。
作者 王伟青 宋东坡 于春冬 吕金峰 李文杰
机构地区 青岛市青岛妇女儿童医院新生儿筛查实验室
出处 《中国循证儿科杂志》 CSCD 北大核心 2019年第4期313-316,共4页 Chinese Journal of Evidence Based Pediatrics
关键词 酰基辅酶A 病例报告 酶缺乏 新生儿疾病筛查 APGAR评分 脱氢 出生体重 体格发育
分类号 R725.8 [医药卫生—儿科]
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  • 1Olsen RK, Andresen BS, Christensen E, Bross P, Skovby F, Gregersen N. Clear relationship between ETF/ETFDH genotype and phenotype in patients with multiple acyl-CoA dehydrogenation deficiency. Hum Mutat 2003,22:12-23. doi: 10.1002/humu.10226. cause of.
  • 2Watmough NJ, Frerman FE. The electron transfer flavoprotein: Ubiquinone oxidoreductases. Biochim Biophys Acta 2010, 1797:1910-6. doi: 10.1016/j.bbabio. 2010.10.007.
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  • 6GregersenN, Wintzensen H, Christensen SK, Christensen MF, BrandtNJ, Rasmussen K. C6-C 10-dicarboxylic aciduria: Investigations of a patient with riboflavin responsive multiple acyl-CoA dehydrogenation defects. Pediatr Res 1982,16:861-8. doi: 10.1203/00006450-198210000-00012.
  • 7Whitaker CH, Felice KJ, Silvers D, Wu Q. Fulrninant lipid storage myopathy due to multiple acyl-coenzyme a dehydrogenase deficiency. Muscle Nerve 2015,52:289-93. doi: 10.1002/mus.24552.
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中国循证儿科杂志
2019年 第4期

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