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Article

Transaldolase deficiency - natural disease course towards adulthood.

Molecular genetics and metabolism - 1 Jun 2026

Horvath Viktoria Bea, Tsiakas Konstantinos, Brennenstuhl Heiko, Choukair Daniela, Hammann Nicole, Niesert Moritz, Fichtner Alexander, Prokisch Holger, Santer René, Wagner Matias, Hoffmann Georg F, Weis Denisa, Lenz Dominic

Abstract excerpt

Transaldolase deficiency is a rare metabolic disease caused by pathogenic variants in the TALDO1 gene. Transaldolase plays an important role in the ribose-5-phosphate production, maintaining the NADPH-dependent lipid biosynthesis and cellular redox homeostasis. A small number of patients, predominantly children, have been reported, with a wide range of phenotypic presentations, including liver and kidney disease,...

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Identifiers

PMID: 41806563
DOI: 10.1016/j.ymgme.2026.109872

Genes

TALDO1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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