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Clinical characteristics and gene mutation analysis of an adult patient with ETFDH‑related multiple acyl‑CoA dehydrogenase deficiency

  • Authors:
    • Chenyi Wang
    • Haihong Lv
    • Xia Xu
    • Yuping Ma
    • Qian Li
  • View Affiliations / Copyright

    Affiliations: Department of Endocrinology, The First Hospital of Lanzhou University, Lanzhou, Gansu 730000, P.R. China
    Copyright: © Wang et al. This is an open access article distributed under the terms of Creative Commons Attribution License.
  • Pages: 4396-4402
    |
    Published online on: September 18, 2020
       https://doi.org/10.3892/mmr.2020.11524
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Abstract

Multiple acyl‑CoA dehydrogenase deficiency (MADD) is a rare autosomal recessive disorder of fatty acid metabolism caused by defects in electron transfer flavoprotein (ETF) or electron transfer flavoprotein dehydrogenase (ETFDH). These defects are mainly classified into the neonatal and late‑onset types, based on their clinical manifestations. ETFDH gene mutations are generally considered to be associated with the late‑onset type. The present study reported an adult woman with late‑onset MADD accompanied with biochemical and muscle biopsy findings indicating metabolic disorders. Gene sequencing analysis showed that the c.1514T>C homozygous mutation in the region of the 12th exon of the ETFDH gene, which led to the amino acid substitution p.I505T (isoleucine > threonine), resulting in defective ETFDH protein function. The results of family verification revealed that the homozygous mutation originated from her parents. The female patient was treated with a large dose of vitamin B2, L‑carnitine and coenzyme Q10, and the symptoms were significantly relieved. The c.1514T>C mutation in the ETFDH gene, was considered as a novel pathogenic mutation that had not been previously reported. Therefore, it was hypothesized that this mutation was responsible for the clinical characteristics of the adult female patient. Overall, this novel mutation could expand the spectrum of the ETFDH gene mutation and provide the basis for the etiological and prenatal diagnosis of MADD.
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Copy and paste a formatted citation
Spandidos Publications style
Wang C, Lv H, Xu X, Ma Y and Li Q: Clinical characteristics and gene mutation analysis of an adult patient with ETFDH‑related multiple acyl‑CoA dehydrogenase deficiency. Mol Med Rep 22: 4396-4402, 2020.
APA
Wang, C., Lv, H., Xu, X., Ma, Y., & Li, Q. (2020). Clinical characteristics and gene mutation analysis of an adult patient with ETFDH‑related multiple acyl‑CoA dehydrogenase deficiency. Molecular Medicine Reports, 22, 4396-4402. https://doi.org/10.3892/mmr.2020.11524
MLA
Wang, C., Lv, H., Xu, X., Ma, Y., Li, Q."Clinical characteristics and gene mutation analysis of an adult patient with ETFDH‑related multiple acyl‑CoA dehydrogenase deficiency". Molecular Medicine Reports 22.5 (2020): 4396-4402.
Chicago
Wang, C., Lv, H., Xu, X., Ma, Y., Li, Q."Clinical characteristics and gene mutation analysis of an adult patient with ETFDH‑related multiple acyl‑CoA dehydrogenase deficiency". Molecular Medicine Reports 22, no. 5 (2020): 4396-4402. https://doi.org/10.3892/mmr.2020.11524
Copy and paste a formatted citation
x
Spandidos Publications style
Wang C, Lv H, Xu X, Ma Y and Li Q: Clinical characteristics and gene mutation analysis of an adult patient with ETFDH‑related multiple acyl‑CoA dehydrogenase deficiency. Mol Med Rep 22: 4396-4402, 2020.
APA
Wang, C., Lv, H., Xu, X., Ma, Y., & Li, Q. (2020). Clinical characteristics and gene mutation analysis of an adult patient with ETFDH‑related multiple acyl‑CoA dehydrogenase deficiency. Molecular Medicine Reports, 22, 4396-4402. https://doi.org/10.3892/mmr.2020.11524
MLA
Wang, C., Lv, H., Xu, X., Ma, Y., Li, Q."Clinical characteristics and gene mutation analysis of an adult patient with ETFDH‑related multiple acyl‑CoA dehydrogenase deficiency". Molecular Medicine Reports 22.5 (2020): 4396-4402.
Chicago
Wang, C., Lv, H., Xu, X., Ma, Y., Li, Q."Clinical characteristics and gene mutation analysis of an adult patient with ETFDH‑related multiple acyl‑CoA dehydrogenase deficiency". Molecular Medicine Reports 22, no. 5 (2020): 4396-4402. https://doi.org/10.3892/mmr.2020.11524
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