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Article

Elevated plasma citrulline: look for dihydrolipoamide dehydrogenase deficiency.

European journal of pediatrics - 1 Feb 2014

Haviv Ruby, Zeharia Avraham, Belaiche Corinne, Haimi Cohen Yishai, Saada Ann

Abstract excerpt

The E3 subunit of the pyruvate dehydrogenase complex (dihydrolipoamide dehydrogenase/dihydrolipoyl dehydrogenase/DLD/lipoamide dehydrogenase/LAD), is a mitochondrial matrix enzyme and also a part of the branched-chain ketoacid dehydrogenase and alpha-ketoglutarate dehydrogenase complexes. DLD deficiency (MIM #246900), is relatively frequent in the Ashkenazi Jewish population but occurs in other populations as...

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Source

Identifiers

PMID: 23995961
DOI: 10.1007/s00431-013-2153-x

Genes

DLD

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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