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L-2-hydroxyglutaric aciduria and lactic acidosis.

作者信息

Barth P G, Wanders R J, Scholte H R, Abeling N, Jakobs C, Schutgens R B, Vreken P

机构信息

Department of Pediatrics, Emma Children's Hospital, Amsterdam, The Netherlands.

出版信息

J Inherit Metab Dis. 1998 Jun;21(3):251-4. doi: 10.1023/a:1005316121584.

DOI:10.1023/a:1005316121584
PMID:9686369
Abstract
摘要

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L-2-hydroxyglutaric aciduria and lactic acidosis.
J Inherit Metab Dis. 1998 Jun;21(3):251-4. doi: 10.1023/a:1005316121584.
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3-Methylglutaconic aciduria associated with Pearson syndrome and respiratory chain defects.与皮尔逊综合征及呼吸链缺陷相关的3-甲基戊二酸尿症
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3-Methylglutaconic aciduria with persistent metabolic acidosis and 'uncoupling episodes'.伴有持续性代谢性酸中毒和“解偶联发作”的3-甲基戊二酸尿症
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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。
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Clinical and magnetic resonance imaging features of L-2-hydroxyglutaric acidemia: report of three cases in comparison with Canavan disease.
J Child Neurol. 1996 Sep;11(5):373-7. doi: 10.1177/088307389601100505.
2
L-2-Hydroxyglutaric aciduria: neuropathological correlations and first report of severe neurodegenerative disease and neonatal death.
J Inherit Metab Dis. 1996;19(3):335-43. doi: 10.1007/BF01799264.
3
Depletion of mitochondrial DNA in the liver of a patient with lactic acidemia and hypoketotic hypoglycemia.一名患有乳酸性酸中毒和低酮性低血糖症患者肝脏中线粒体DNA的耗竭。
J Pediatr. 1996 May;128(5 Pt 1):679-83. doi: 10.1016/s0022-3476(96)80134-x.
4
Therapeutic Targeting of Cancer Stem Cells: Integrating and Exploiting the Acidic Niche.
癌症干细胞的治疗靶点：整合与利用酸性微环境
Front Oncol. 2019 Mar 19;9:159. doi: 10.3389/fonc.2019.00159. eCollection 2019.
4
Oxidative stress among L-2-hydroxyglutaric aciduria disease patients: evaluation of dynamic thiol/disulfide homeostasis.L-2-羟戊二酸尿症患者的氧化应激：动态巯基/二硫键动态平衡评估。
Metab Brain Dis. 2019 Feb;34(1):283-288. doi: 10.1007/s11011-018-0354-8. Epub 2018 Nov 29.
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
Acidic pH Is a Metabolic Switch for 2-Hydroxyglutarate Generation and Signaling.酸性pH值是2-羟基戊二酸生成和信号传导的代谢开关。
J Biol Chem. 2016 Sep 16;291(38):20188-97. doi: 10.1074/jbc.M116.738799. Epub 2016 Aug 10.
7
Founder effect confirmation of c.241A>G mutation in the L2HGDH gene and characterization of oxidative stress parameters in six Tunisian families with L-2-hydroxyglutaric aciduria.L2HGDH基因中c.241A>G突变的奠基者效应证实及六个突尼斯L-2-羟基戊二酸尿症家系氧化应激参数的特征分析
J Hum Genet. 2014 Apr;59(4):216-22. doi: 10.1038/jhg.2014.4. Epub 2014 Feb 27.
8
Metabolic causes of epileptic encephalopathy.癫痫性脑病的代谢性病因。
Epilepsy Res Treat. 2013;2013:124934. doi: 10.1155/2013/124934. Epub 2013 May 22.
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Disruption of mitochondrial homeostasis in organic acidurias: insights from human and animal studies.有机酸血症中线粒体动态平衡的破坏：来自人体和动物研究的见解。
J Bioenerg Biomembr. 2011 Feb;43(1):31-8. doi: 10.1007/s10863-011-9324-0.
L-2-hydroxyglutaric acidaemia: clinical and biochemical findings in 12 patients and preliminary report on L-2-hydroxyacid dehydrogenase.L-2-羟基戊二酸血症：12例患者的临床和生化检查结果及L-2-羟基酸脱氢酶的初步报告
J Inherit Metab Dis. 1993;16(4):753-61. doi: 10.1007/BF00711907.
5
L-2-hydroxyglutarate dehydrogenase: identification of a novel enzyme activity in rat and human liver. Implications for L-2-hydroxyglutaric acidemia.L-2-羟基戊二酸脱氢酶：大鼠和人肝脏中一种新型酶活性的鉴定。对L-2-羟基戊二酸血症的意义。
Biochim Biophys Acta. 1993 Nov 25;1225(1):53-6. doi: 10.1016/0925-4439(93)90121-g.
6
Clinical and pathological study of three Tunisian siblings with L-2-hydroxyglutaric aciduria.
Acta Neuropathol. 1994;88(4):367-70. doi: 10.1007/BF00310381.
7
D-2-hydroxyglutaric acidaemia: identification of a new enzyme, D-2-hydroxyglutarate dehydrogenase, localized in mitochondria.D-2-羟基戊二酸血症：一种定位于线粒体的新酶——D-2-羟基戊二酸脱氢酶的鉴定。
J Inherit Metab Dis. 1995;18(2):194-6. doi: 10.1007/BF00711764.
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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？
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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.