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Article

Bi-allelic Variants in TKFC Encoding Triokinase/FMN Cyclase Are Associated with Cataracts and Multisystem Disease.

American journal of human genetics - 6 Feb 2020

Wortmann Saskia B, Meunier Brigitte, Mestek-Boukhibar Lamia, van den Broek Florence, Maldonado Elaina M, Clement Emma, Weghuber Daniel, Spenger Johannes, Jaros Zdenek, Taha Fatma, Yue Wyatt W, Heales Simon J, Davison James E, Mayr Johannes A, Rahman Shamima

Abstract excerpt

We report an inborn error of metabolism caused by TKFC deficiency in two unrelated families. Rapid trio genome sequencing in family 1 and exome sequencing in family 2 excluded known genetic etiologies, and further variant analysis identified rare homozygous variants in TKFC. TKFC encodes a bifunctional enzyme involved in fructose metabolism through its glyceraldehyde kinase activity and in the generation of...

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Identifiers

PMID: 32004446
DOI: 10.1016/j.ajhg.2020.01.005
PMCID: PMC7010975

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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