Abstract:
:Pyruvate dehydrogenase deficiency is a major cause of primary lactic acidosis and neurological dysfunction in infancy and early childhood. Most cases are caused by mutations in the X-linked gene for the E1alpha subunit of the complex. Mutations in DLAT, the gene encoding dihydrolipoamide acetyltransferase, the E2 core component of the complex, have not been described previously. We report two unrelated patients with pyruvate dehydrogenase deficiency caused by defects in the E2 subunit. Both patients are less severely affected than typical patients with E1alpha mutations and both have survived well into childhood. Episodic dystonia was the major neurological manifestation, with other more common features of pyruvate dehydrogenase deficiency, such as hypotonia and ataxia, being less prominent. The patients had neuroradiological evidence of discrete lesions restricted to the globus pallidus, and both are homozygous for different mutations in the DLAT gene. The clinical presentation and neuroradiological findings are not typical of pyruvate dehydrogenase deficiency and extend the clinical and mutational spectrum of this condition.
journal_name
Ann Neuroljournal_title
Annals of neurologyauthors
Head RA,Brown RM,Zolkipli Z,Shahdadpuri R,King MD,Clayton PT,Brown GKdoi
10.1002/ana.20550keywords:
subject
Has Abstractpub_date
2005-08-01 00:00:00pages
234-41issue
2eissn
0364-5134issn
1531-8249journal_volume
58pub_type
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journal_title:Annals of neurology
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doi:10.1002/ana.410080304
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journal_title:Annals of neurology
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journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410260604
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journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410380422
更新日期:1995-10-01 00:00:00
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pub_type: 杂志文章
doi:10.1002/ana.24674
更新日期:2016-06-01 00:00:00
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journal_title:Annals of neurology
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doi:10.1002/ana.410310212
更新日期:1992-02-01 00:00:00
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journal_title:Annals of neurology
pub_type: 杂志文章,评审
doi:10.1002/ana.21841
更新日期:2010-02-01 00:00:00
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doi:10.1002/ana.21113
更新日期:2007-09-01 00:00:00
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journal_title:Annals of neurology
pub_type: 杂志文章
doi:
更新日期:2000-03-01 00:00:00
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journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.24151
更新日期:2014-05-01 00:00:00
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journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410180211
更新日期:1985-08-01 00:00:00
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journal_title:Annals of neurology
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doi:10.1002/ana.410160109
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journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/1531-8249(199911)46:5<791::aid-ana18>3.0.c
更新日期:1999-11-01 00:00:00
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journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410190212
更新日期:1986-02-01 00:00:00
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journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410300317
更新日期:1991-09-01 00:00:00
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journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.21357
更新日期:2008-04-01 00:00:00
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journal_title:Annals of neurology
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更新日期:1993-09-01 00:00:00
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journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410030522
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journal_title:Annals of neurology
pub_type: 杂志文章,评审
doi:10.1002/ana.410320316
更新日期:1992-09-01 00:00:00