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Article

Novel mutations in dihydrolipoamide dehydrogenase deficiency in two cousins with borderline-normal PDH complex activity.

American journal of medical genetics. Part A - 15 Jul 2006

Cameron Jessie M, Levandovskiy Valeriy, Mackay Neviana, Raiman Julian, Renaud Deborah L, Clarke Joe T R, Feigenbaum Annette, Elpeleg Orly, Robinson Brian H

Abstract excerpt

We have diagnosed dihydrolipoamide dehydrogenase (DLD) deficiency in two male second cousins, who presented with markedly different clinical phenotypes. Patient 1 had a recurrent encephalopathy, and patient 2 had microcephaly and lactic acidosis. Their presentation is unusual, in that the DLD subunit deficiency had little effect on pyruvate dehydrogenase complex activity, but caused a severe reduction in the...

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Source

Identifiers

PMID: 16770810
DOI: 10.1002/ajmg.a.31313

Genes

DLD

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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