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Article

Characterization of the mutations in three patients with pyruvate dehydrogenase E1 alpha deficiency.

Journal of inherited metabolic disease - 1 Jan 1991

Hansen L L, Brown G K, Kirby D M, Dahl H H

Abstract excerpt

The human pyruvate dehydrogenase complex catalyses the oxidative decarboxylation of pyruvate to acetyl-CoA. Defects in several of the seven subunits have been reported, but the majority of mutations affect the E1 component and especially the E1 alpha subunit. However, the clinical presentation of patients with pyruvate dehydrogenase E1 alpha deficiency is extremely variable. Dependency of the brain on pyruvate...

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Identifiers

PMID: 1909401
DOI: 10.1007/BF01800586

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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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