Journal
AMERICAN JOURNAL OF HUMAN GENETICS
Volume 89, Issue 6, Pages 792-797Publisher
CELL PRESS
DOI: 10.1016/j.ajhg.2011.11.011
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Funding
- Austrian Pediatric Society (OGKJ)
- Vereinigung zur Forderung der padiatrischen Forschung und Fortbildung Salzburg
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Lipoic acid is an essential prosthetic group of four mitochondrial enzymes involved in the oxidative decarboxylation of pyruvate, alpha-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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