Pyruvate dehydrogenase complex-E2 deficiency causes paroxysmal exercise-induced dyskinesia.
作者信息
Friedman Jennifer, Feigenbaum Annette, Chuang Nathaniel, Silhavy Jennifer, Gleeson Joseph G
机构信息
From the University of California San Diego (J.F., A.F., N.C., J.S., J.G.G.); Rady Children's Hospital (J.F., A.F., N.C., J.G.G.); Rady Children's Institute for Genomic Medicine (J.F., J.G.G.), San Diego, CA; and Howard Hughes Medical Institute (J.G.G.), Chevy Chase, MD.
出版信息
Neurology. 2017 Nov 28;89(22):2297-2298. doi: 10.1212/WNL.0000000000004689. Epub 2017 Nov 1.
Abstract
摘要
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本文引用的文献
1
Paroxysmal movement disorders: An update.发作性运动障碍：最新进展
Rev Neurol (Paris). 2016 Aug-Sep;172(8-9):433-445. doi: 10.1016/j.neurol.2016.07.005. Epub 2016 Aug 25.
2
Pyruvate dehydrogenase deficiency presenting as isolated paroxysmal exercise induced dystonia successfully reversed with thiamine supplementation. Case report and mini-review.丙酮酸脱氢酶缺乏症表现为孤立性阵发性运动诱发性肌张力障碍，补充硫胺素后成功逆转。病例报告及简要综述。
Eur J Paediatr Neurol. 2015 Sep;19(5):497-503. doi: 10.1016/j.ejpn.2015.04.008. Epub 2015 May 14.
3
Spectrum of neurological and survival outcomes in pyruvate dehydrogenase complex (PDC) deficiency: lack of correlation with genotype.丙酮酸脱氢酶复合物（PDC）缺陷的神经和生存结局谱：与基因型缺乏相关性。
Mol Genet Metab. 2012 Nov;107(3):394-402. doi: 10.1016/j.ymgme.2012.09.001. Epub 2012 Sep 7.
4
Pyruvate dehydrogenase E2 deficiency: a potentially treatable cause of episodic dystonia.丙酮酸脱氢酶 E2 缺乏：一种潜在可治疗的发作性肌张力障碍病因。
Eur J Paediatr Neurol. 2010 Jul;14(4):349-53. doi: 10.1016/j.ejpn.2009.11.001. Epub 2009 Dec 21.
5
Pyruvate dehydrogenase complex deficiency: four neurological phenotypes with differing pathogenesis.丙酮酸脱氢酶复合物缺陷：四种具有不同发病机制的神经表型。
Dev Med Child Neurol. 2010 Feb;52(2):e1-9. doi: 10.1111/j.1469-8749.2009.03541.x. Epub 2009 Dec 1.
6
Clinical and genetic spectrum of pyruvate dehydrogenase deficiency: dihydrolipoamide acetyltransferase (E2) deficiency.丙酮酸脱氢酶缺乏症的临床和遗传谱：二氢硫辛酰胺乙酰转移酶（E2）缺乏症
Ann Neurol. 2005 Aug;58(2):234-41. doi: 10.1002/ana.20550.
7
Defects in the E2 lipoyl transacetylase and the X-lipoyl containing component of the pyruvate dehydrogenase complex in patients with lactic acidemia.乳酸血症患者丙酮酸脱氢酶复合体的E2硫辛酰转乙酰基酶和含X硫辛酰成分存在缺陷。
J Clin Invest. 1990 Jun;85(6):1821-4. doi: 10.1172/JCI114641.
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