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A novel mutation as a cause of L-2-hydroxyglutaric aciduria.

作者信息

O'Connor Ged, King M, Salomons G, Jakobs C, Hardiman O

出版信息

J Neurol. 2009 Apr;256(4):672-3. doi: 10.1007/s00415-009-0107-z. Epub 2009 Apr 27.

DOI:10.1007/s00415-009-0107-z
PMID:19444541
Abstract
摘要

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1
A novel mutation as a cause of L-2-hydroxyglutaric aciduria.一种导致L-2-羟基戊二酸尿症的新型突变。
J Neurol. 2009 Apr;256(4):672-3. doi: 10.1007/s00415-009-0107-z. Epub 2009 Apr 27.
2
[L-2-hydroxyglutaric aciduria, an error of metabolism].[L-2-羟基戊二酸尿症，一种代谢紊乱疾病]
Bull Mem Acad R Med Belg. 2007;162(10-12):451-6; discussion 456-7.
3
L: -2-Hydroxyglutaric aciduria, a disorder of metabolite repair.L：2-羟基戊二酸尿症，一种代谢物修复障碍疾病。
J Inherit Metab Dis. 2009 Apr;32(2):135-42. doi: 10.1007/s10545-008-1042-3. Epub 2008 Nov 21.
4
Two novel L2HGDH mutations identified in a rare Chinese family with L-2-hydroxyglutaric aciduria.在一个罕见的患有L-2-羟基戊二酸尿症的中国家庭中鉴定出两种新的L2HGDH突变。
BMC Med Genet. 2018 Sep 14;19(1):167. doi: 10.1186/s12881-018-0675-9.
5
The gene mutated in l-2-hydroxyglutaric aciduria encodes l-2-hydroxyglutarate dehydrogenase.在L-2-羟基戊二酸尿症中发生突变的基因编码L-2-羟基戊二酸脱氢酶。
Biochimie. 2006 Jan;88(1):113-6. doi: 10.1016/j.biochi.2005.06.005. Epub 2005 Jun 23.
6
L-2 hydroxyglutaric aciduria as a rare cause of leukencephalopathy in adults.L-2-羟基戊二酸尿症是成人白质脑病的罕见病因。
Clin Neurol Neurosurg. 2013 Jun;115(6):765-6. doi: 10.1016/j.clineuro.2012.06.040. Epub 2012 Jul 25.
7
A gene encoding a putative FAD-dependent L-2-hydroxyglutarate dehydrogenase is mutated in L-2-hydroxyglutaric aciduria.一种编码假定的黄素腺嘌呤二核苷酸（FAD）依赖性L-2-羟基戊二酸脱氢酶的基因在L-2-羟基戊二酸尿症中发生突变。
Proc Natl Acad Sci U S A. 2004 Nov 30;101(48):16849-54. doi: 10.1073/pnas.0404840101. Epub 2004 Nov 17.
8
A successfully treated adult patient with L-2-hydroxyglutaric aciduria.一名成功接受治疗的成年L-2-羟基戊二酸尿症患者。
Neurology. 2008 Mar 25;70(13):1051-2. doi: 10.1212/01.wnl.0000287141.90944.95.
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Clinical, neuroimaging, and genetic features of L-2-hydroxyglutaric aciduria in Arab kindreds.阿拉伯家族性L-2-羟基戊二酸尿症的临床、神经影像学和遗传学特征
Ann Saudi Med. 2014 Mar-Apr;34(2):107-14. doi: 10.5144/0256-4947.2014.107.
10
Novel insights into L-2-hydroxyglutaric aciduria: mass isotopomer studies reveal 2-oxoglutaric acid as the metabolic precursor of L-2-hydroxyglutaric acid.L-2-羟基戊二酸尿症的新见解：质量同位素异构体研究揭示2-氧代戊二酸是L-2-羟基戊二酸的代谢前体。
J Inherit Metab Dis. 2007 Oct;30(5):690-3. doi: 10.1007/s10545-007-0697-5. Epub 2007 Sep 17.

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In Silico Analysis of the L-2-Hydroxyglutarate Dehydrogenase Gene Mutations and Their Biological Impact on Disease Etiology.L-2-羟戊二酸脱氢酶基因突变的计算机分析及其对疾病发病机制的生物学影响。
Genes (Basel). 2022 Apr 15;13(4):698. doi: 10.3390/genes13040698.
2
A novel protein truncating mutation in L2HGDH causes L-2-hydroxyglutaric aciduria in a consanguineous Pakistani family.一个新的 L2HGDH 蛋白截断突变导致巴基斯坦一个近亲家族患上 L-2-羟戊二酸尿症。
Metab Brain Dis. 2022 Jan;37(1):243-252. doi: 10.1007/s11011-021-00832-2. Epub 2021 Nov 1.
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Clinicoradiological Spectrum of L-2-Hydroxy Glutaric Aciduria: Typical and Atypical Findings in an Indian Cohort.

本文引用的文献

1
L-2-hydroxyglutaric aciduria: clinical, neuroimaging, and neuropathological findings.L-2-羟基戊二酸尿症：临床、神经影像学及神经病理学表现
Arch Neurol. 2005 Apr;62(4):666-70. doi: 10.1001/archneur.62.4.666.
2
A gene encoding a putative FAD-dependent L-2-hydroxyglutarate dehydrogenase is mutated in L-2-hydroxyglutaric aciduria.一种编码假定的黄素腺嘌呤二核苷酸（FAD）依赖性L-2-羟基戊二酸脱氢酶的基因在L-2-羟基戊二酸尿症中发生突变。
Proc Natl Acad Sci U S A. 2004 Nov 30;101(48):16849-54. doi: 10.1073/pnas.0404840101. Epub 2004 Nov 17.
3
L-2-Hydroxyglutaric aciduria: identification of a mutant gene C14orf160, localized on chromosome 14q22.1.
L-2-羟基戊二酸尿症的临床放射学谱：印度队列中的典型和非典型表现
J Clin Imaging Sci. 2019 Feb 27;9:3. doi: 10.25259/JCIS-9-3. eCollection 2019.
4
A novel compound heterozygous mutation of the L2HGDH gene in a Chinese boy with L-2-hydroxyglutaric aciduria: case report and literature review.一个中国男孩患 L-2-羟戊二酸尿症，携带 L2HGDH 基因的新型复合杂合突变：病例报告及文献复习。
Neurol Sci. 2018 Oct;39(10):1697-1703. doi: 10.1007/s10072-018-3483-2. Epub 2018 Jul 6.
5
Identification of novel L2HGDH mutation in a large consanguineous Pakistani family- a case report.一个大型近亲巴基斯坦家族中 L2HGDH 基因突变的鉴定：病例报告。
BMC Med Genet. 2018 Feb 20;19(1):25. doi: 10.1186/s12881-018-0532-x.
6
Model-based confirmation of alternative substrates of mitochondrial electron transport chain.基于模型的线粒体电子传递链替代底物的确认。
J Biol Chem. 2012 Mar 30;287(14):11122-31. doi: 10.1074/jbc.M111.310383. Epub 2012 Feb 9.
7
Identification of the 2-hydroxyglutarate and isovaleryl-CoA dehydrogenases as alternative electron donors linking lysine catabolism to the electron transport chain of Arabidopsis mitochondria.鉴定 2-羟戊二酸脱氢酶和异戊酰基辅酶 A 脱氢酶作为赖氨酸分解代谢与拟南芥线粒体电子传递链连接的替代电子供体。
Plant Cell. 2010 May;22(5):1549-63. doi: 10.1105/tpc.110.075630. Epub 2010 May 25.
8
L-2-hydroxyglutaric aciduria diagnosed in an adult presenting with acute deterioration.一名成年患者因急性病情恶化被诊断为L-2-羟基戊二酸尿症。
J Neurol. 2010 Jan;257(1):146-8. doi: 10.1007/s00415-009-5319-8.
L-2-羟基戊二酸尿症：位于14号染色体14q22.1上的突变基因C14orf160的鉴定。
Hum Mol Genet. 2004 Nov 15;13(22):2803-11. doi: 10.1093/hmg/ddh300. Epub 2004 Sep 22.
4
L-2-hydroxyglutaric aciduria: two Japanese adult cases in one family.
J Neurol. 1999 May;246(5):378-82. doi: 10.1007/s004150050367.
5
L-2-Hydroxyglutaric aciduria: MRI in seven cases.
Neuroradiology. 1998 Nov;40(11):727-33. doi: 10.1007/s002340050673.
6
L-2-Hydroxyglutaric aciduria: an inborn error of metabolism?L-2-羟基戊二酸尿症：一种先天性代谢缺陷病？
J Inherit Metab Dis. 1980;3(4):109-12. doi: 10.1007/BF02312543.
7
L-2-hydroxyglutaric acidemia: a novel inherited neurometabolic disease.L-2-羟基戊二酸血症：一种新型遗传性神经代谢疾病。
Ann Neurol. 1992 Jul;32(1):66-71. doi: 10.1002/ana.410320111.