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Article

Prevalence and cardiometabolic correlates of ketohexokinase gene variants among UK Biobank participants.

PloS one - 1 Jan 2021

Johnston Joseph A, Nelson David R, Bhatnagar Pallav, Curtis Sarah E, Chen Yu, MacKrell James G

Abstract excerpt

Essential fructosuria (EF) is a benign, asymptomatic, autosomal recessive condition caused by loss-of-function variants in the ketohexokinase gene and characterized by intermittent appearance of fructose in the urine. Despite a basic understanding of the genetic and molecular basis of EF, relatively little is known about the long-term clinical consequences of ketohexokinase gene variants. We examined the...

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PMID: 33621267
DOI: 10.1371/journal.pone.0247683
PMCID: PMC7901775

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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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