RARE DISEASERESEARCH ATLAS
Open navigation menu

ORPHA:469

Hereditary fructose intolerance

high confidenceDisorder

Also known as: Hereditary fructose-1-phosphate aldolase deficiency · Hereditary fructosemia

Publications

4,146

91.6th percentile

Trials

6

Interventional, condition-specific

Researchers

1,232

Distinct authors in sample

Gene link

ALDOB

Definitive

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

fructose intolerance (HFI) is an disorder of fructose metabolism, resulting from a deficiency of hepatic fructose-1-phosphate aldolase activity and leading to gastrointestinal disorders and postprandial following fructose ingestion. HFI is a benign condition when treated, but it is life-threatening and potentially fatal if left untreated.

How rare: 1-9 / 100 000 — about one to nine people per hundred thousand.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (10)

Fructosaemia · Fructose Intolerance, Hereditary · fructose intolerance · fructose intolerance, hereditary · fructose-1,6-bisphosphate aldolase B deficiency · fructosemia · hereditary fructose intolerance · hereditary fructose intolerance syndrome · hereditary fructose-1-phosphate aldolase deficiency · hereditary fructosemia

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.”

4/6 stages with a signal

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedPresent

    Definitive — ALDOB

  2. LiteraturePresent

    4,146 matched papers (2,632 in last 10 years) Source

  3. Phenotype characterisedPresent

    54 HPO annotations (e.g. Jaundice; Hypermagnesemia; Seizure) 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 trialPresent

    6 matched on ClinicalTrials.gov

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?

Yes — we know a specific gene responsible (ALDOB).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

54

Associated phenotypes · MONDO:0009249

  • Jaundice
  • Hypermagnesemia
  • Seizure
  • Lethargy
  • Coma

Showing 5 of 54 — 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

1

Drugs / clinical candidates · MONDO_0009249

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

4,146

4,146 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

4,146 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).

2,632 in the last 10 years · high confidence · 91.6th percentile (publications denominator)

Phrase hits: 1,938 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,232

Distinct author names in 200 sampled papers — named people below.

Who's working on it?

People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.

  1. 01
    Izquierdo-García E9 papers · 2026

    Servicio de Farmacia, Hospital Universitario Infanta Leonor, Madrid, España; Asociación de Afectados por Intolerancia Hereditaria a la Fructosa (AAIHF), España. Electronic address: elsa.izquierdo@salud.madrid.org.

    Papers in Europe PMC
  2. 02
    Couce ML8 papers · 2026

    Unit of Diagnosis and Treatment of Congenital Metabolic Diseases, Department of Pediatrics, Hospital Clínico Universitario de Santiago de Compostela, CIBERER, Health Research Institute of Santiago de Compostela (IDIS), A Choupana, s/n, Santiago de Compostela, A Coruña, 15706, Spain.

    Papers in Europe PMC
  3. 03
    Alcalde C7 papers · 2026

    Paediatrics Unit, Río Hortega University Hospital, Calle Dulzaina 2, Valladolid, 47012, Spain.

    Papers in Europe PMC
  4. 04
    Brouwers MCGJ7 papers · 2026

    Division of Endocrinology, Department of Internal Medicine, Maastricht University Medical Center, Maastricht, The Netherlands. mcgj.brouwers@mumc.nl.

    Papers in Europe PMC
  5. 05
    Cano A7 papers · 2026

    Filière nationale de santé maladies rares G2m- Maladies Héréditaires du Métabolisme: G2m French Rare Diseases Healthcare Network for Inherited Metabolic Diseases, Paris, France.

    Papers in Europe PMC
  6. 06
    Belanger-Quintana A6 papers · 2026

    Metabolic Diseases Unit, Department of Paediatrics, Ramón y Cajal Hospital, 28034, Madrid, Spain.

    Papers in Europe PMC
  7. 07
    Cañedo-Villarroya E6 papers · 2026

    Department of Metabolism Diseases and Nutrition, Niño Jesús University Children´s Hospital, 28009, Madrid, Spain.

    Papers in Europe PMC
  8. 08
    Ceberio L6 papers · 2026

    Biocruces Bizkaia Health Research Institute, 48093, Barakaldo, Spain.

    Papers in Europe PMC
  9. 09
    Chumillas-Calzada S6 papers · 2026

    12 de Octubre University Hospital, CIBERER, MetabERN, 28041, Madrid, Spain.

    Papers in Europe PMC
  10. 10
    Correcher P6 papers · 2026

    Nutrition and Metabolic diseases Unit, La Fe University Hospital, 46026, Valencia, Spain.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

6

interventional trials for this specific condition

6 interventional trials matched this specific condition name; none in our sample are currently recruiting.

Data as of 11 September 2026 · last trial check 28 July 2026

6 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 90.1th percentile).

high confidence · 90.1th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

6 interventional trials matched after quoted-phrase search and title/condition post-filter.

No currently recruiting studies in the matched set. Open the same search on ClinicalTrials.gov.

Observational and natural-history studies

6 observational studies match this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.

None of the matched observational studies is currently listed as recruiting.

Open the complete matched search on ClinicalTrials.gov

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 15 · after dedupe 15 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 15 · 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 (15)

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 Hereditary fructose intolerance — 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.

("Hereditary fructose intolerance" OR "Hereditary fructose-1-phosphate aldolase deficiency" OR "Hereditary fructosemia" OR "Fructosaemia" OR "Fructose Intolerance, Hereditary" OR "fructose intolerance" OR "fructose-1,6-bisphosphate aldolase B deficiency" OR "fructosemia" OR "hereditary fructose intolerance syndrome") OR ("ALDOB" OR "ALDOB syndrome" OR "ALDOB-related")

Run this search on Europe PMC

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

"Hereditary fructose intolerance" OR "Hereditary fructose-1-phosphate aldolase deficiency" OR "Hereditary fructosemia" OR "Fructosaemia" OR "Fructose Intolerance, Hereditary" OR "fructose intolerance" OR "fructose-1,6-bisphosphate aldolase B deficiency" OR "fructosemia" OR "hereditary fructose intolerance syndrome"

Interventional trials matched via: phrase (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).

Study-type breakdown: 6 interventional · 6 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 2026-07-26T13:56:07.894Z