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essential fructosuria - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

essential fructosuria

MONDO:0009252

Also known as:fructokinase deficiencyfructosuria, essentialketohexokinase deficiency

Overview

Essential fructosuria is a rare autosomal recessive disorder of fructose metabolism caused by a deficiency of fructokinaseenzyme activity. It is characterized by elevated fructosemia and presence of fructosuria following ingestion of fructose and related sugars (sucrose, sorbitol). Essential fructosuria is clinically asymptomatic and harmless. Dietary restriction is not indicated.

GeneticsAutosomal recessive · KHK (chr 2)

ResearchLimited published research (4 articles)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Impairment of fructose metabolism, Elevated urine fructose level, and Abnormal circulating enzyme concentration or activity; and very common findings: Abnormality of glycolipid metabolism, Abnormal erythrocyte enzyme concentration or activity, and Abnormal urine carbohydrate level.

Organ System	Phenotype Count	Example Features
Metabolism	2	Impairment of fructose metabolism, Abnormality of glycolipid metabolism

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

KHK encodes ketohexokinase (298 aa). Catalyzes the phosphorylation of the ketose sugar fructose to fructose-1-phosphate Highest expression in Liver (118.1 TPM) and Kidney Cortex (54.2 TPM).

Essential fructosuria is associated with mutations in the KHK gene on chromosome 2.

The KHK protein participates in Essential fructosuria pathway.

KHK is classified as a druggable target (Druggable Genome, Enzyme, and Kinase categories) with score 52.2.

Diagnosis

Genetic testing for KHK is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for essential fructosuria has been reported in the published literature.

Prognosis

Phenotype severity distribution: 3 always present features, 3 very common features.

Estimated prevalence: Unknown (Unknown prevalence).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for essential fructosuria.

4 publications have been identified in PubMed for essential fructosuria. Research spans Review / Meta-Analysis (50%), Diagnostic / Biomarker (25%), and Case Report / Case Series (25%).

Recent Publications

Mathew D (2025). [PMID: 40789968](https://pubmed.ncbi.nlm.nih.gov/40789968/). *Compr Physiol*. [Review / Meta-Analysis]
Almoghrabi YM (2025). [PMID: 40626223](https://pubmed.ncbi.nlm.nih.gov/40626223/). *Front Nutr*. [Review / Meta-Analysis]
Elsaman T (2025). [PMID: 40260383](https://pubmed.ncbi.nlm.nih.gov/40260383/). *Front Pharmacol*. [Diagnostic / Biomarker]
Zawadzki J (2025). [PMID: 40428357](https://pubmed.ncbi.nlm.nih.gov/40428357/). *Genes (Basel)*. [Case Report / Case Series]

Data assembled from 6 of 12 sources · Last updated Sep 18, 2026, 7:12 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:229800

Orphanet

European rare disease database

Orphanet:2056

GARD

Genetic and Rare Diseases Info Center

GARD:6471

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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essential fructosuria

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

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Questions for Your Care Team

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