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Article

Thiamine pyrophosphokinase deficiency in encephalopathic children with defects in the pyruvate oxidation pathway.

American journal of human genetics - 9 Dec 2011

Mayr Johannes A, Freisinger Peter, Schlachter Kurt, Rolinski Boris, Zimmermann Franz A, Scheffner Thomas, Haack Tobias B, Koch Johannes, Ahting Uwe, Prokisch Holger, Sperl Wolfgang

Abstract excerpt

Thiamine pyrophosphate (TPP) is an essential cofactor of the cytosolic transketolase and of three mitochondrial enzymes involved in the oxidative decarboxylation of either pyruvate, α-ketoglutarate or branched chain amino acids. Thiamine is taken up by specific transporters into the cell and converted to the active TPP by thiamine pyrophosphokinase (TPK) in the cytosol from where it can be transported into...

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Identifiers

PMID: 22152682
DOI: 10.1016/j.ajhg.2011.11.007
PMCID: PMC3234371

Genes

TPK1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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