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ACADVL基因变异致极长链酰基辅酶A脱氢酶缺乏症(心肌病型)1例

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摘要 1临床资料患儿,男,2月25天,因“奶量减少2 d,精神欠佳1 d,咳嗽、吐奶半天”于2023年3月31日入院。既往史、个人史、家族史:新生儿期串联质谱筛查发现游离肉碱(C0)水平降低为7.38μmol/L(参考值:10~50μmol/L),复查其水平仍低(6.17μmol/L),26日龄遗传病全外显子组测序检测示ACADVL基因存在临床意义未明的复合杂合变异为c.1844G>C(p.Arg615Pro)和c.383_385del(p.Val128del).
作者 陈海燕 李花 李凤娟 李陶 刘美珍 何佳莉 陈正武
机构地区 绵阳市妇幼保健院·绵阳市儿童医院儿科
出处 《四川医学》 CAS 2023年第12期1335-1337,共3页 Sichuan Medical Journal
关键词 新生儿期 全外显子组测序 心肌病 未明 ACAD 游离肉碱 既往史 参考值
分类号 R72 [医药卫生—儿科]
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  • 1Rui-Nan Zhang,Yi-Fan Li,Wen-Juan Qiu,Jun Ye,Lian-Shu Han,Hui-Wen Zhang,Na Lin,Xue-Fan Gu.Clinical features and mutations in seven Chinese patients with very long chain acyl-CoA dehydrogenase deficiency[J].World Journal of Pediatrics,2014(2):119-125. 被引量：8
  • 2Lindner M, Hoffmann GF, Matern D. Newborn screening for disorders of fatty-acid oxidation: experience and recommendations from an expert meeting[ J]. J Inherit Metab Dis, 2010,33 (5) : 521-526.
  • 3Andresen BS, Bross P, Vianey-Saban C, et al. Cloning and characterization of human very long-chain acyl-CoA dehydrogenase cDNA, chromosomal assignment of the gene and identification in four patients of nine different mutations within the VLCAD gene [J]. Hum Mol Genet, 1996, 5(4) :461-472.
  • 4Andresen BS, Olpin S, Poorthuis BJ, et al. Clear correlation of genotype with disease phenotype in very-long-chain acyl-CoA dehydrogenase deficiency[J]. Am J Hum Genet, 1999, 64(2): 479-494.
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  • 10Zytkovicz TH, Fitzgerald EF, Marsden D, et al. Tandem mass spectrometric analysis for amino, organic, and fatty acid disorders in newborn dried blood spots: a two-year summary from the New England Newborn Screening Program[ J]. Clin Chem, 2001, 47 (11) : 1945-1955.

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四川医学
2023年 第12期

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