在一例成年发病的2型戊二酸血症患者中，使用苯扎贝特和核黄素改善酰基肉碱谱，该患者电子传递黄素蛋白脱氢酶（ETFDH）基因存在新突变。 - Suppr

Amelioration of acylcarnitine profile using bezafibrate and riboflavin in a case of adult-onset glutaric acidemia type 2 with novel mutations of the electron transfer flavoprotein dehydrogenase (ETFDH) gene.

作者信息

Shioya Ayako, Takuma Hiroshi, Yamaguchi Seiji, Ishii Akiko, Hiroki Masahiko, Fukuda Tokiko, Sugie Hideo, Shigematsu Yosuke, Tamaoka Akira

机构信息

Department of Neurology, Faculty of Medicine, University of Tsukuba, Ibaraki, Japan.

出版信息

J Neurol Sci. 2014 Nov 15;346(1-2):350-2. doi: 10.1016/j.jns.2014.08.040. Epub 2014 Aug 30.

DOI:10.1016/j.jns.2014.08.040

PMID:25216552

Abstract

摘要

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Amelioration of acylcarnitine profile using bezafibrate and riboflavin in a case of adult-onset glutaric acidemia type 2 with novel mutations of the electron transfer flavoprotein dehydrogenase (ETFDH) gene.在一例成年发病的2型戊二酸血症患者中，使用苯扎贝特和核黄素改善酰基肉碱谱，该患者电子传递黄素蛋白脱氢酶（ETFDH）基因存在新突变。

J Neurol Sci. 2014 Nov 15;346(1-2):350-2. doi: 10.1016/j.jns.2014.08.040. Epub 2014 Aug 30.

Characterization of two ETFDH mutations in a novel case of riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency.新型核黄素反应性多发性酰基辅酶 A 脱氢酶缺乏症两例 ETFDH 突变的特征。

Lipids Health Dis. 2018 Nov 13;17(1):254. doi: 10.1186/s12944-018-0903-5.

Novel mutations in ETFDH gene in Chinese patients with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency.中国核黄素反应性多种酰基辅酶A脱氢酶缺乏症患者ETFDH基因的新突变

Clin Chim Acta. 2009 Jun 27;404(2):95-9. doi: 10.1016/j.cca.2009.02.015. Epub 2009 Mar 3.

A novel electron transfer flavoprotein dehydrogenase (ETFDH) gene mutation identified in a newborn with glutaric acidemia type II: a case report of a Chinese family.一个新型电子转移黄素蛋白脱氢酶（ETFDH）基因突变在 II 型戊二酸血症新生儿中的鉴定：一个中国家族的病例报告。

BMC Med Genet. 2020 May 11;21(1):98. doi: 10.1186/s12881-020-00995-2.

High resolution melting analysis facilitates mutation screening of ETFDH gene: applications in riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency.高分辨率熔解分析有助于 ETFDH 基因突变筛查：在核黄素反应性多发性酰基辅酶 A 脱氢酶缺乏症中的应用。

Clin Chim Acta. 2010 May 2;411(9-10):690-9. doi: 10.1016/j.cca.2010.01.033. Epub 2010 Feb 6.

Patient with multiple acyl-CoA dehydrogenase deficiency disease and ETFDH mutations benefits from riboflavin therapy: a case report.患有多种酰基辅酶A脱氢酶缺乏症和ETFDH突变的患者从核黄素治疗中获益：一例报告

BMC Med Genomics. 2018 Apr 3;11(1):37. doi: 10.1186/s12920-018-0356-8.

A novel ETFDH mutation in an adult patient with late-onset riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency.一名成年迟发性核黄素反应性多种酰基辅酶A脱氢酶缺乏症患者的新型ETFDH突变

Int J Neurosci. 2018 Mar;128(3):291-294. doi: 10.1080/00207454.2017.1380641. Epub 2017 Oct 9.

Clinical Features of Multiple Acyl-CoA Dehydrogenase Deficiency With ETFDH Variants in the First Korean Cases.韩国首例携带ETFDH变异体的多种酰基辅酶A脱氢酶缺乏症的临床特征

Ann Lab Med. 2018 Nov;38(6):616-618. doi: 10.3343/alm.2018.38.6.616.

ETFDH mutations, CoQ10 levels, and respiratory chain activities in patients with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency.核黄素反应性多酰基辅酶A脱氢酶缺乏症患者的ETFDH突变、辅酶Q10水平及呼吸链活性

Neuromuscul Disord. 2009 Mar;19(3):212-6. doi: 10.1016/j.nmd.2009.01.008. Epub 2009 Feb 26.

Multiple acyl-CoA-dehydrogenase deficiency (MADD)--a novel mutation of electron-transferring-flavoprotein dehydrogenase ETFDH.多种酰基辅酶 A 脱氢酶缺乏症（MADD）——电子传递黄素蛋白脱氢酶 ETFDH 的一种新突变。

J Neurol Sci. 2011 Aug 15;307(1-2):166-7. doi: 10.1016/j.jns.2011.05.001. Epub 2011 May 25.

引用本文的文献

Clinical and molecular investigation of 37 Japanese patients with multiple acyl-CoA dehydrogenase deficiency: p.Y507D in , a common Japanese variant, causes a mortal phenotype.37例日本多发性酰基辅酶A脱氢酶缺乏症患者的临床和分子研究：日本常见变异体中p.Y507D导致致命表型。

Mol Genet Metab Rep. 2022 Nov 14;33:100940. doi: 10.1016/j.ymgmr.2022.100940. eCollection 2022 Dec.

Clinical, Biochemical, and Genetic Heterogeneity in Glutaric Aciduria Type II Patients.Ⅱ型戊二酸血症患者的临床、生化和遗传异质性。

Genes (Basel). 2021 Aug 27;12(9):1334. doi: 10.3390/genes12091334.

Characterization of and Mutations in a Patient with Mild Glutaric Aciduria Type II and Serine Deficiency.患者轻度戊二酸尿症 II 型和丝氨酸缺乏症的和突变特征。

Genes (Basel). 2021 May 8;12(5):703. doi: 10.3390/genes12050703.

Targeted Therapies for Metabolic Myopathies Related to Glycogen Storage and Lipid Metabolism: a Systematic Review and Steps Towards a 'Treatabolome'.靶向治疗与糖原储存和脂质代谢相关的代谢性肌病：系统评价及迈向“治疗组学”的步骤。

J Neuromuscul Dis. 2021;8(3):401-417. doi: 10.3233/JND-200621.

BMC Med Genet. 2020 May 11;21(1):98. doi: 10.1186/s12881-020-00995-2.

Late-onset riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency (MADD): case reports and epidemiology of ETFDH gene mutations.迟发性核黄素反应性多发性酰基辅酶 A 脱氢酶缺乏症（MADD）：ETFDH 基因突变的病例报告和流行病学。

BMC Neurol. 2019 Dec 18;19(1):330. doi: 10.1186/s12883-019-1562-5.

Bezafibrate In Vivo Administration Prevents 3-Methylglutaric Acid-Induced Impairment of Redox Status, Mitochondrial Biogenesis, and Neural Injury in Brain of Developing Rats.贝扎贝特在体内给药可预防 3-甲基戊二酸诱导的发育期大鼠大脑氧化还原状态、线粒体生物发生和神经损伤。

Neurotox Res. 2019 May;35(4):809-822. doi: 10.1007/s12640-019-00019-9. Epub 2019 Mar 9.

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Amelioration of acylcarnitine profile using bezafibrate and riboflavin in a case of adult-onset glutaric acidemia type 2 with novel mutations of the electron transfer flavoprotein dehydrogenase (ETFDH) gene.

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