Annals of Laboratory Medicine

Korean Society for Laboratory Medicine (대한진단검사의학회)
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Clinical Features of Multiple Acyl-CoA Dehydrogenase Deficiency With ETFDH Variants in the First Korean Cases

  • Kim, Yoo Jinie (Department of Pediatrics, Seoul National University College of Medicine, Seoul National University Children's Hospital) ;
  • Ko, Jung Min (Department of Pediatrics, Seoul National University College of Medicine, Seoul National University Children's Hospital) ;
  • Song, Junghan (Department of Laboratory Medicine, Seoul National University College of Medicine) ;
  • Lee, Kyung-A (Department of Laboratory Medicine, Yonsei University College of Medicine)
  • Received : 2017.12.17
  • Accepted : 2018.06.19
  • Published : 2018.11.01
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Abstract

Keywords

Acknowledgement

Supported by : Ministry of Health & Welfare

References

  1. Przyrembel H, Wendel U, Becker K, Bremer HJ, Bruinvis L, Ketting D, et al. Glutaric aciduria type II: report on a previously undescribed metabolic disorder. Clin Chim Acta 1976;66:227-39. https://doi.org/10.1016/0009-8981(76)90060-7
  2. Lindner M, Hoffmann GF, Matern D. Newborn screening for disorders of fatty-acid oxidation: experience and recommendations from an expert meeting. J Inherit Metab Dis 2010;33:521-6. https://doi.org/10.1007/s10545-010-9076-8
  3. Grunert SC. Clinical and genetical heterogeneity of late-onset multiple acyl-coenzyme A dehydrogenase deficiency. Orphanet J Rare Dis 2014; 9:117. https://doi.org/10.1186/s13023-014-0117-5
  4. Lehnert W, Wendel U, Lindenmaier S, Bohm N. Multiple acyl-CoA dehydrogenation deficiency (glutaric aciduria type II), congenital polycystic kidneys, and symmetric warty dysplasia of the cerebral cortex in two brothers. Europ J Pediat 1982;139:56-9. https://doi.org/10.1007/BF00442081
  5. Al-Essa MA, Rashed MS, Bakheet SM, Patay ZJ, Ozand PT. Glutaric aciduria type II: observations in seven patients with neonatal- and late-onset disease. J Perinatol 2000;2:120-8.
  6. Olsen RK, Olpin SE, Andresen BS, Miedzybrodzka ZH, Pourfarzam M, Merinero B, et al. ETFDH mutations as a major cause of riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency. Brain 2007; 130:2045-54. https://doi.org/10.1093/brain/awm135
  7. Chen M, Peng J, Wei W, Wang R, Xu H, Liu H. A novel ETFDH mutation in an adult patient with late-onset riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency. Int J Neurosci 2018;128:291-4. https://doi.org/10.1080/00207454.2017.1380641
  8. Yotsumoto Y, Hasegawa Y, Fukuda S, Kobayashi H, Endo M, Fukao T, et al. Clinical and molecular investigations of Japanese cases of glutaric acidemia type 2. Mol Genet Metab 2008;94:61-7. https://doi.org/10.1016/j.ymgme.2008.01.002
  9. Livak KJ and Schmittgen TD. Analysis of relative gene expression data using real-time quantitative PCR and the 2(-Delta Delta C(T)) method. Methods 2001;402-8.
  10. Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med 2015;17:405-24. https://doi.org/10.1038/gim.2015.30

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