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Article

A novel mutation in the dihydrolipoamide dehydrogenase E3 subunit gene (DLD) resulting in an atypical form of alpha-ketoglutarate dehydrogenase deficiency.

Human mutation - 1 Mar 2005

Odièvre Marie-Hélène, Chretien Dominique, Munnich Arnold, Robinson Brian H, Dumoulin Renée, Masmoudi Sahben, Kadhom Noman, Rötig Agnès, Rustin Pierre, Bonnefont Jean-Paul

Abstract excerpt

The alpha-ketoglutarate dehydrogenase complex (KGDC) catalyses the decarboxylation of alpha-ketoglutarate into succinyl-coenzyme A in the Krebs cycle. This enzymatic complex is made up of three subunits (E1, encoded by PDHA1; E2, encoded by DLST; and E3, encoded by DLD). The E3 subunit is common to two other enzymatic complexes, namely pyruvate dehydrogenase complex (PDC) and branched-chain ketoacid dehydrogenase...

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Source

Identifiers

PMID: 15712224
DOI: 10.1002/humu.9319

Genes

PDC
DLD
DLST
PDHA1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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