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Article

Four novel PDHA1 mutations in pyruvate dehydrogenase deficiency.

Journal of inherited metabolic disease - 1 Dec 2009

Ostergaard E, Moller L Birk, Kalkanoglu-Sivri H Serap, Dursun A, Kibaek M, Thelle T, Christensen E, Duno M, Wibrand F

Abstract excerpt

The pyruvate dehydrogenase (PDH) complex is a mitochondrial multienzyme that catalyses the irreversible oxidative decarboxylation of pyruvate to acetyl-CoA. We report four novel PDHA1 mutations in patients with pyruvate dehydrogenase deficiency. Analysis of PDH activity showed decreased activity in fibroblasts from all four patients, around 16-52% of mean control, similar to what has been found in previous...

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Source

Identifiers

PMID: 19517265
DOI: 10.1007/s10545-009-1179-8

Genes

PDHA1

Variants

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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