RARE DISEASERESEARCH ATLAS
Open navigation menu

ORPHA:469

Hereditary fructose intolerance

high confidenceDisorder

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

Query health: suspect — Only one of 2 strategies returned hits (phrase).

Publications

1,938

92.7th percentile

Trials

6

Interventional, condition-specific

Researchers

1,232

Distinct authors in sample

Gene link

ALDOB

Definitive

Readiness

3/6

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.”

3/6 stages with a signal

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

  1. Gene identifiedPresent

    Definitive — ALDOB

  2. LiteraturePresent

    1,938 matched papers (863 in last 10 years) Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  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)

Not enriched in this build — Monarch phenotype joins were not run for this record.

Animal models (Monarch / Alliance)

Not enriched in this build.

Literature

Is anyone studying this?

1,938

1,938 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=5449) is 41.

1,938 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).

863 in the last 10 years · high confidence · 92.7th 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 27 July 2026

6 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 89th percentile).

high confidence · 89th 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

Where to find support

We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:

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"

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" OR "ALDOB"

Recall-expansion terms: ALDOB

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: suspect — strategies attempted: phrase, recall-expansion; 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