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  Lipoic acid synthetase deficiency causes neonatal-onset epilepsy, defective mitochondrial energy metabolism, and glycine elevation

Mayr, J. A., Zimmermann, F. A., Fauth, C., Bergheim, C., Meierhofer, D., Radmayr, D., et al. (2011). Lipoic acid synthetase deficiency causes neonatal-onset epilepsy, defective mitochondrial energy metabolism, and glycine elevation. The American Journal of Human Genetics, 89(6), 792-797. doi:10.1016/j.ajhg.2011.11.011.

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Item Permalink: http://hdl.handle.net/11858/00-001M-0000-0028-7E4B-A Version Permalink: http://hdl.handle.net/11858/00-001M-0000-0028-7E4C-8
Genre: Journal Article

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Mayr.pdf (Publisher version), 491KB
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© 2011 Elsevier B.V.
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 Creators:
Mayr, Johannes A. , Author
Zimmermann, Franz A. , Author
Fauth, Christine , Author
Bergheim, Christa, Author
Meierhofer, David1, Author              
Radmayr, Doris , Author
Zschocke, Johannes , Author
Koch, Johannes, Author
Sperl, Wolfgang, Author
Affiliations:
1Mass Spectrometry (Head: David Meierhofer), Scientific Service (Head: Christoph Krukenkamp), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1479669              

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 Abstract: Lipoic acid is an essential prosthetic group of four mitochondrial enzymes involved in the oxidative decarboxylation of pyruvate, α-ketoglutarate, and branched chain amino acids and in the glycine cleavage. Lipoic acid is synthesized stepwise within mitochondria through a process that includes lipoic acid synthetase. We identified the homozygous mutation c.746G>A (p.Arg249His) in LIAS in an individual with neonatal-onset epilepsy, muscular hypotonia, lactic acidosis, and elevated glycine concentration in plasma and urine. Investigation of the mitochondrial energy metabolism showed reduced oxidation of pyruvate and decreased pyruvate dehydrogenase complex activity. A pronounced reduction of the prosthetic group lipoamide was found in lipoylated proteins.

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Language(s): eng - English
 Dates: 2011-12-09
 Publication Status: Published in print
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 Identifiers: DOI: 10.1016/j.ajhg.2011.11.011
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Title: The American Journal of Human Genetics
  Other : Am. J. Hum. Genet.
Source Genre: Journal
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Publ. Info: American Society of Human Genetics
Pages: - Volume / Issue: 89 (6) Sequence Number: - Start / End Page: 792 - 797 Identifier: ISSN: 0002-9297
CoNE: https://pure.mpg.de/cone/journals/resource/954925377893_1