一名男性因E1α亚基中的点突变（F205L）导致丙酮酸脱氢酶缺乏症。 - Suppr

Pyruvate dehydrogenase deficiency in a male caused by a point mutation (F205L) in the E1 alpha subunit.

作者信息

Dahl H H, Brown G K

机构信息

Murdoch Institute for Research into Birth Defects, Royal Children's Hospital, Parkville, Melbourne, Victoria, Australia.

出版信息

Hum Mutat. 1994;3(2):152-5. doi: 10.1002/humu.1380030210.

DOI:10.1002/humu.1380030210

PMID:8199595

Abstract

摘要

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Pyruvate dehydrogenase deficiency in a male caused by a point mutation (F205L) in the E1 alpha subunit.一名男性因E1α亚基中的点突变（F205L）导致丙酮酸脱氢酶缺乏症。

Hum Mutat. 1994;3(2):152-5. doi: 10.1002/humu.1380030210.

A mutation in the E1 alpha subunit of pyruvate dehydrogenase associated with variable expression of pyruvate dehydrogenase complex deficiency.丙酮酸脱氢酶E1α亚基的突变与丙酮酸脱氢酶复合物缺乏的可变表达相关。

Pediatr Res. 1992 Aug;32(2):169-74. doi: 10.1203/00006450-199208000-00009.

Mutations and polymorphisms in the pyruvate dehydrogenase E1 alpha gene.丙酮酸脱氢酶E1α基因的突变与多态性

Hum Mutat. 1992;1(2):97-102. doi: 10.1002/humu.1380010203.

Mutations in the X-linked pyruvate dehydrogenase (E1) alpha subunit gene (PDHA1) in patients with a pyruvate dehydrogenase complex deficiency.丙酮酸脱氢酶复合体缺乏症患者X连锁丙酮酸脱氢酶（E1）α亚基基因（PDHA1）的突变

Hum Mutat. 2000;15(3):209-19. doi: 10.1002/(SICI)1098-1004(200003)15:3<209::AID-HUMU1>3.0.CO;2-K.

A novel mutation in the dihydrolipoamide dehydrogenase E3 subunit gene (DLD) resulting in an atypical form of alpha-ketoglutarate dehydrogenase deficiency.二氢硫辛酰胺脱氢酶E3亚基基因（DLD）中的一种新型突变导致非典型形式的α-酮戊二酸脱氢酶缺乏症。

Hum Mutat. 2005 Mar;25(3):323-4. doi: 10.1002/humu.9319.

Pyruvate dehydrogenase deficiency caused by a four-nucleotide insertion in the E1 alpha subunit gene.

Hum Mol Genet. 1994 Jul;3(7):1193-4. doi: 10.1093/hmg/3.7.1193.

Mutations in the X-linked E1 alpha subunit of pyruvate dehydrogenase leading to deficiency of the pyruvate dehydrogenase complex.丙酮酸脱氢酶的X连锁E1α亚基发生突变，导致丙酮酸脱氢酶复合体缺乏。

Hum Mol Genet. 1993 Apr;2(4):449-54. doi: 10.1093/hmg/2.4.449.

A novel mutation (P316L) in a female with pyruvate dehydrogenase E1 alpha deficiency.一名患有丙酮酸脱氢酶E1α缺乏症女性中的一种新型突变（P316L）。

Hum Mutat. 1995;6(3):274-5. doi: 10.1002/humu.1380060317.

Pyruvate dehydrogenase deficiency: molecular basis for intrafamilial heterogeneity.

Ann Neurol. 1994 Jul;36(1):83-9. doi: 10.1002/ana.410360116.

E1 pyruvate dehydrogenase deficiency in a child with motor neuropathy.一名患有运动神经病的儿童的E1型丙酮酸脱氢酶缺乏症

Pediatr Res. 1993 Mar;33(3):284-8. doi: 10.1203/00006450-199303000-00016.

引用本文的文献

The spectrum of pyruvate dehydrogenase complex deficiency: clinical, biochemical and genetic features in 371 patients.丙酮酸脱氢酶复合物缺陷症谱：371 例患者的临床、生化和遗传学特征。

Mol Genet Metab. 2012 Jul;106(3):385-94. doi: 10.1016/j.ymgme.2012.03.017.

The spectrum of pyruvate dehydrogenase complex deficiency: clinical, biochemical and genetic features in 371 patients.丙酮酸脱氢酶复合物缺陷症的谱：371 例患者的临床、生化和遗传特征。

Mol Genet Metab. 2012 Jan;105(1):34-43. doi: 10.1016/j.ymgme.2011.09.032. Epub 2011 Oct 7.

Mutations in the X-linked E1 alpha subunit of pyruvate dehydrogenase: exon skipping, insertion of duplicate sequence, and missense mutations leading to the deficiency of the pyruvate dehydrogenase complex.丙酮酸脱氢酶X连锁E1α亚基的突变：外显子跳跃、重复序列插入以及导致丙酮酸脱氢酶复合体缺乏的错义突变。

Am J Hum Genet. 1995 Mar;56(3):558-69.

Pyruvate dehydrogenase E1 alpha deficiency: males and females differ yet again.丙酮酸脱氢酶E1α缺乏症：男性和女性再次表现出差异。

Am J Hum Genet. 1995 Mar;56(3):553-7.

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Pyruvate dehydrogenase deficiency in a male caused by a point mutation (F205L) in the E1 alpha subunit.

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