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

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.

journal_name

Am J Hum Genet

journal_title

American journal of human genetics

authors

Mayr JA,Zimmermann FA,Fauth C,Bergheim C,Meierhofer D,Radmayr D,Zschocke J,Koch J,Sperl W

doi

10.1016/j.ajhg.2011.11.011

subject

Has Abstract

pub_date

2011-12-09 00:00:00

pages

792-7

issue

6

eissn

0002-9297

issn

1537-6605

pii

S0002-9297(11)00489-7

journal_volume

89

pub_type

杂志文章

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