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ORPHA:2056

Essential fructosuria

high confidenceDisorder

Also known as: Fructokinase deficiency · Ketohexokinase deficiency

Publications

169

53.4th percentile

Trials

0

Interventional, condition-specific

Researchers

749

Distinct authors in sample

Gene link

KHK

Moderate

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

Essential fructosuria is a rare 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.

How rare: How common this is has not been clearly measured.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

Additional Mondo synonyms (3)

fructokinase deficiency · fructosuria, essential · ketohexokinase deficiency

Research stages

Trial readiness signals

Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”

3/6 stages with a signal

No matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.

  1. Gene identifiedPresent

    Moderate — KHK

  2. LiteraturePresent

    169 matched papers (75 in last 10 years) Source

  3. Phenotype characterisedPresent

    8 HPO annotations (e.g. Impairment of fructose metabolism; Elevated urine fructose level; Abnormality of glycolipid metabolism) Source

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. Interventional trialNot found

    No matched interventional trial under our ClinicalTrials.gov rules

Biology

Genes and phenotypes

Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.

Do we know what causes it?

Probably — there is moderate evidence for KHK.

GenCC classification: Moderate.

Phenotypes (Monarch / HPO)

8

Associated phenotypes · MONDO:0009252

  • Impairment of fructose metabolism
  • Elevated urine fructose level
  • Abnormality of glycolipid metabolism
  • Abnormal erythrocyte enzyme concentration or activity

Showing 4 of 8 — open Monarch for the full list.

Animal models (Monarch / Alliance)

None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.

Monarch fetch 2026-07-29

Therapies

Designations, candidates, and chemicals

FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.

Orphan designation (FDA · EMA)

No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.

Open Targets candidates

No drugs or clinical candidates returned for this Mondo ID on Open Targets.

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

169

169 papers have ever been published on this condition (under this name). For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

169 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 59 (publications denominator n=3967).

75 in the last 10 years · high confidence · 53.4th percentile (publications denominator)

Phrase hits: 169 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

749

Distinct author names in 169 sampled papers — named people below.

Who's working on it?

No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.

  1. 01
    Johnson RJ10 papers · 2026

    1] Division of Renal Diseases and Hypertension, University of Colorado, Aurora, Colorado, USA [2] Division of Nephrology, Eastern Colorado Health Care System, Department of Veteran Affairs, Denver, Colorado, USA.

    Papers in Europe PMC
  2. 02
    Lanaspa MA10 papers · 2026

    Division of Renal Diseases and Hypertension, University of Colorado, Aurora, Colorado, USA.

    Papers in Europe PMC
  3. 03
    Nakagawa T8 papers · 2023

    Division of Renal Diseases and Hypertension, University of Colorado, Aurora, Colorado, USA.

    Papers in Europe PMC
  4. 04
    Andres-Hernando A7 papers · 2023

    The Division of Renal Diseases and Hypertension, Department of Medicine, University of Colorado, Denver, Colorado;

    Papers in Europe PMC
  5. 05
    Cicerchi C6 papers · 2023

    Division of Renal Diseases and Hypertension, University of Colorado, Aurora, Colorado, USA.

    Papers in Europe PMC
  6. 06
    Bonthron DT5 papers · 2014

    Leeds Institute of Biomedical & Clinical Sciences, University of Leeds, Leeds, United Kingdom; and.

    Papers in Europe PMC
  7. 07
    Ishimoto T5 papers · 2018

    Division of Renal Diseases and Hypertension, University of Colorado, Aurora, Colorado, USA.

    Papers in Europe PMC
  8. 08
    Tolan DR5 papers · 2026

    Department of Biology, Boston University, Boston, MA USA.

    Papers in Europe PMC
  9. 09
    Ferraris RP4 papers · 2020

    Department of Pharmacology and Physiology, New Jersey Medical School, Rutgers University, Newark, New Jersey; and ferraris@njms.rutgers.edu.

    Papers in Europe PMC
  10. 10
    Kuwabara M4 papers · 2023

    Division of Renal Diseases and Hypertension, University of Colorado Anschutz Medical Campus, Aurora, CO 80045.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

0

interventional trials for this specific condition

No interventional trial testing a treatment matched this specific condition name on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present).

Data as of 11 September 2026 · last trial check 11 September 2026

No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.

high confidence · 38.6th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.

See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.

Other registries (secondary)

Broader net from EU CTIS, ISRCTN, and ICTRP when available — deduped against ClinicalTrials.gov IDs already counted above. Dual-model LLM relevance gates what we keep. These rows are not added to the interventional headline.

raw 1 · after dedupe 1 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 1 · dropped 0 · fetched 2026-07-29

Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri

No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).

Uncertain / not reviewed (1)

Where to find support

Condition-specific patient organisations, when Orphanet lists them, are on the disease’s Orphanet page. We also link umbrella groups that support undiagnosed and ultra-rare families.

Orphanet entry for Essential fructosuria — check Associations / patient organisations on that page.

India — NPRD

Last verified 2026-07-26

This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.

Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.

How we counted this

Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored on the overview but are not added to the query string.

("Essential fructosuria" OR "Fructokinase deficiency" OR "Ketohexokinase deficiency" OR "fructosuria, essential") OR ("KHK syndrome" OR "KHK-related")

Run this search on Europe PMC

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"Essential fructosuria" OR "Fructokinase deficiency" OR "Ketohexokinase deficiency" OR "fructosuria, essential"

Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.

Query health: ok — strategies attempted: phrase; with hits: phrase

Run this search on ClinicalTrials.gov

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • No synonyms dropped by stoplist
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-26T18:57:31.220Z