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Biochemical and molecular diagnosis of lipoamide dehydrogenase deficiency in a North American Ashkenazi Jewish family.

作者信息

Sansaricq C, Pardo S, Balwani M, Grace M, Raymond K

机构信息

Department of Human Genetics, Mount Sinai School of Medicine, New York, NY 10029, USA.

出版信息

J Inherit Metab Dis. 2006 Feb;29(1):203-4. doi: 10.1007/s10545-006-0175-5.

DOI:10.1007/s10545-006-0175-5
PMID:16601893
Abstract

A late-onset presentation of lipoamide dehydrogenase (E3) deficiency is described in a North American Ashkenazi Jewish (AJ) family. Diagnosis was made by urine organic acid and molecular analyses.

摘要

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本文引用的文献

1
Molecular basis of lipoamide dehydrogenase deficiency in Ashkenazi Jews.
Am J Med Genet. 1999 Jan 15;82(2):177-82.
2
Congenital lacticacidemia caused by lipoamide dehydrogenase deficiency with favorable outcome.由硫辛酰胺脱氢酶缺乏引起的先天性乳酸性酸中毒，预后良好。
J Pediatr. 1995 Jan;126(1):72-4. doi: 10.1016/s0022-3476(95)70506-6.
生酮饮食对二氢硫辛酰胺脱氢酶缺乏症患者的影响。
Nutrients. 2021 Oct 7;13(10):3523. doi: 10.3390/nu13103523.
4
Underlying molecular alterations in human dihydrolipoamide dehydrogenase deficiency revealed by structural analyses of disease-causing enzyme variants.通过对致病酶变体的结构分析揭示人类二氢硫辛酰胺脱氢酶缺乏症的潜在分子改变。
Hum Mol Genet. 2019 Oct 15;28(20):3339-3354. doi: 10.1093/hmg/ddz177.
5
Newborn screening for dihydrolipoamide dehydrogenase deficiency: Citrulline as a useful analyte.二氢硫辛酰胺脱氢酶缺乏症的新生儿筛查：瓜氨酸作为一种有用的分析物。
Mol Genet Metab Rep. 2014 Aug 15;1:345-349. doi: 10.1016/j.ymgmr.2014.07.007. eCollection 2014.
6
Structural alterations induced by ten disease-causing mutations of human dihydrolipoamide dehydrogenase analyzed by hydrogen/deuterium-exchange mass spectrometry: Implications for the structural basis of E3 deficiency.通过氢/氘交换质谱分析人类二氢硫辛酰胺脱氢酶的十种致病突变所诱导的结构改变：对E3缺乏症结构基础的启示
Biochim Biophys Acta. 2016 Nov;1862(11):2098-2109. doi: 10.1016/j.bbadis.2016.08.013. Epub 2016 Aug 18.
7
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.
8
Leigh syndrome in a girl with a novel DLD mutation causing E3 deficiency.女孩患 Leigh 综合征，携带导致 E3 缺乏的新型 DLD 突变。
Pediatr Neurol. 2013 Jan;48(1):67-72. doi: 10.1016/j.pediatrneurol.2012.09.013.
9
Experience with carrier screening and prenatal diagnosis for 16 Ashkenazi Jewish genetic diseases.16 种阿什肯纳兹犹太人遗传病的携带者筛查和产前诊断经验。
Hum Mutat. 2010 Nov;31(11):1240-50. doi: 10.1002/humu.21327.