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极长链酰基辅酶A脱氢酶缺乏症1例报告并文献复习 被引量：2

One case report of very long-chain acyl-CoA dehydrogenase deficiency and literature review
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摘要 极长链酰基辅酶A脱氢酶缺乏症(VLCADD)是一种涉及线粒体基质脂肪酸β氧化起始阶段的疾病,缺陷酶由ACADVL基因编码[1]。此疾病可出现在从新生儿期到成年期的各个年龄段。国内已将VLCADD列为罕见病,天津市儿童医院收治了1例以肌力下降为首发表现的VLCADD患儿,就其临床表现、实验室指标、血酰基肉碱谱和尿气相色谱质谱分析、基因检测等结果并结合文献复习,汇报如下。
作者 李冰 王晓敏 张丽萍 舒剑波 Li Bing;Wang Xiaomin;Zhang Liping;Shu Jianbo(Department of Intensive Care Unit,Tianjin Children's Hospital(Tianjin University Children's Hospital),Tianjin 300134,China;Tianjin Pediatric Research Institute,Tianjin 300134,China;Tianjin Key Laboratory of Birth Defects for Prevention and Treatment,Tianjin 300134,China)
机构地区 天津市儿童医院(天津大学儿童医院)重症医学科 天津市儿科研究所 天津市儿童出生缺陷防治重点实验室
出处 《国际内分泌代谢杂志》 2021年第4期376-380,共5页 International Journal of Endocrinology and Metabolism
关键词 天津市儿童医院 脂肪酸β氧化 新生儿期 罕见病 线粒体基质 基因检测 首发表现 肌力下降
分类号 R725.8 [医药卫生—儿科]
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  • 1Lindner 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.
  • 2Andresen 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.
  • 3Andresen 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.
  • 4Tong MK, Lain CS, Mak TW, et al. Very long-chain acyl-CoA dehydrogenase deficiency presenting as acute hypercapnic respiratory failure [ J ]. Eur Respir J, 2006, 28 ( 2 ) :447-450.
  • 5Vianey-Saban C, Divry P, Brivet M, et al. Mitochondrial very- long-chain aeylcoenzyme A dehydrogenase deficiency: clinical characteristics and diagnostic considerations in 30 patients [ J ] . Clin Chim Acta, 1998, 269( 1 ) :43-62.
  • 6Wood JC, Magera MJ, Rinaldo P, et al. Diagnosis of very long chain acyl-dehydrogenase deficiency from an infant's newborn screening card [ J ]. Pediatrics, 2001,108 ( 1 ) : E19.
  • 7Sehiff M, Mohsen AW, Karunanidhi A, et al. Molecular and cellular pathology of very-longehain acyl-CoA dehydrogenase deficiency [ J ]. Mol Genet Metab, 2013, 109 ( 1 ) :21-27.
  • 8Zhang RN, Li YF, Qiu WJ, et al. Clinical features and mutations in seven Chinese patients with very long chain acyl-CoA dehydrogenase deficiency [ J ]. World J Pediatr, 2014, 10 ( 2 ) : 119-125.
  • 9Zytkovicz 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.
  • 10Tajima G, Sakura N, Shirao K, et al. Development of a new enzymatic diagnosis method for very-long-chain cyl-CoA dehydrogenase deficiency by detecting 2-hexadecenoyl-CoA production and its application in tandem mass spectrometry-based selective screening and newborn screening in Japan [ J ]. Pediatr Res, 2008, 64(6) :667-672.

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国际内分泌代谢杂志
2021年 第4期

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