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Lipoamide dehydrogenase deficiency: a new cause for recurrent myoglobinuria.

作者信息

Elpeleg O N, Saada A B, Shaag A, Glustein J Z, Ruitenbeek W, Tein I, Halevy J

机构信息

Metabolic Unit, Shaare-Zedek Medical Center, Jerusalem, Isreal.

出版信息

Muscle Nerve. 1997 Feb;20(2):238-40. doi: 10.1002/(sici)1097-4598(199702)20:2<238::aid-mus18>3.0.co;2-z.

DOI:10.1002/(sici)1097-4598(199702)20:2<238::aid-mus18>3.0.co;2-z
PMID:9040667
Abstract
摘要

相似文献

1
Lipoamide dehydrogenase deficiency: a new cause for recurrent myoglobinuria.
Muscle Nerve. 1997 Feb;20(2):238-40. doi: 10.1002/(sici)1097-4598(199702)20:2<238::aid-mus18>3.0.co;2-z.
2
[Lipoamide dehydrogenase deficiency].[硫辛酰胺脱氢酶缺乏症]
Ryoikibetsu Shokogun Shirizu. 1998(18 Pt 1):341-2.
3
Liver disease in the Ashkenazi-Jewish lipoamide dehydrogenase deficiency.阿什肯纳兹犹太人硫辛酰胺脱氢酶缺乏症中的肝脏疾病。
J Pediatr Gastroenterol Nutr. 1997 May;24(5):599-601. doi: 10.1097/00005176-199705000-00019.
4
Biochemical and molecular diagnosis of lipoamide dehydrogenase deficiency in a North American Ashkenazi Jewish family.
J Inherit Metab Dis. 2006 Feb;29(1):203-4. doi: 10.1007/s10545-006-0175-5.
5
Recurrent myoglobinuria as a presenting manifestation of very long chain acyl coenzyme A dehydrogenase deficiency.
Pediatrics. 1997 Jun;99(6):894-6. doi: 10.1542/peds.99.6.894.
6
Lipoamide dehydrogenase deficiency in Ashkenazi Jews: an insertion mutation in the mitochondrial leader sequence.德系犹太人中的硫辛酰胺脱氢酶缺乏症：线粒体前导序列中的一个插入突变。
Hum Mutat. 1997;10(3):256-7. doi: 10.1002/(SICI)1098-1004(1997)10:3<256::AID-HUMU16>3.0.CO;2-Z.
7
ATP synthesis in lipoamide dehydrogenase deficiency.
Biochem Biophys Res Commun. 2000 Mar 16;269(2):382-6. doi: 10.1006/bbrc.2000.2310.
8
Lipoamide dehydrogenase deficiency: a newly discovered cause of acute hepatitis in adults.
J Hepatol. 1998 Sep;29(3):482-4. doi: 10.1016/s0168-8278(98)80069-x.
9
Molecular basis of lipoamide dehydrogenase deficiency in Ashkenazi Jews.
Am J Med Genet. 1999 Jan 15;82(2):177-82.
10
Novel mutations in a boy with dihydrolipoamide dehydrogenase deficiency.一名患有二氢硫辛酰胺脱氢酶缺乏症男孩的新突变
Med Sci Monit. 2001 Nov-Dec;7(6):1319-25.

引用本文的文献

1
Hepatic Form of Dihydrolipoamide Dehydrogenase Deficiency (DLDD): Phenotypic Spectrum, Laboratory Findings, and Therapeutic Approaches in 52 Patients.二氢硫辛酰胺脱氢酶缺乏症（DLDD）的肝脏形式：52例患者的表型谱、实验室检查结果及治疗方法
J Inherit Metab Dis. 2025 May;48(3):e70035. doi: 10.1002/jimd.70035.
2
Mutant IDH in Gliomas: Role in Cancer and Treatment Options.胶质瘤中的突变异柠檬酸脱氢酶：在癌症中的作用及治疗选择
Cancers (Basel). 2023 May 23;15(11):2883. doi: 10.3390/cancers15112883.
3
An Updated View on the Molecular Pathomechanisms of Human Dihydrolipoamide Dehydrogenase Deficiency in Light of Novel Crystallographic Evidence.
新型晶体学证据更新的人类二氢硫辛酰胺脱氢酶缺乏症的分子发病机制。
Neurochem Res. 2019 Oct;44(10):2307-2313. doi: 10.1007/s11064-019-02766-9. Epub 2019 Mar 7.
4
Homozygous mutation, p.Pro304His, in IDH3A, encoding isocitrate dehydrogenase subunit is associated with severe encephalopathy in infancy.编码异柠檬酸脱氢酶亚基的IDH3A基因中的纯合突变p.Pro304His与婴儿期严重脑病相关。
Neurogenetics. 2017 Jan;18(1):57-61. doi: 10.1007/s10048-016-0507-z. Epub 2017 Jan 5.
5
Conformational Change Near the Redox Center of Dihydrolipoamide Dehydrogenase Induced by NAD(+) to Regulate the Enzyme Activity.NAD(+)诱导二氢硫辛酰胺脱氢酶氧化还原中心附近的构象变化以调节酶活性。
J Fluoresc. 2015 May;25(3):577-83. doi: 10.1007/s10895-015-1537-x. Epub 2015 Mar 11.
6
Cryptic proteolytic activity of dihydrolipoamide dehydrogenase.二氢硫辛酰胺脱氢酶的隐蔽蛋白水解活性。
Proc Natl Acad Sci U S A. 2007 Apr 10;104(15):6158-63. doi: 10.1073/pnas.0610618104. Epub 2007 Apr 2.
7
Leigh syndrome due to compound heterozygosity of dihydrolipoamide dehydrogenase gene mutations. Description of the first E3 splice site mutation.由二氢硫辛酰胺脱氢酶基因突变的复合杂合性导致的 Leigh 综合征。首例 E3 剪接位点突变的描述。
Eur J Pediatr. 2003 Oct;162(10):714-8. doi: 10.1007/s00431-003-1282-z. Epub 2003 Aug 19.
8
Demonstration of a new pathogenic mutation in human complex I deficiency: a 5-bp duplication in the nuclear gene encoding the 18-kD (AQDQ) subunit.人类复合体I缺乏症中一种新的致病突变的证明：编码18-kD（AQDQ）亚基的核基因中存在5个碱基对的重复。
Am J Hum Genet. 1998 Feb;62(2):262-8. doi: 10.1086/301716.