ORPHA:79238
Galactose epimerase deficiency
Also known as: GALE deficiency · GALE deficiency galactosemia · Galactose epimerase deficiency galactosemia · Galactosemia type 3 · Galactosemia type III · Type 3 galactosemia · Type III galactosemia · UDP-galactose-4-epimerase deficiency · Uridine diphosphate galactose-4-epimerase deficiency
Publications
38,514
Trials
0
Interventional, condition-specific
Researchers
1,376
Distinct authors in sample
Gene link
GALE
Definitive
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A rare galactosemia characterized by a spectrum of clinical presentations. In the peripheral form, GALE impairment is restricted to circulating red and white blood cells, with normal or near-normal levels in fibroblasts and/or other tissues (liver, EBV transformed fibroblasts). The intermediate form is defined as a deficient GALE activity in red and white blood cells, and < 50% of normal levels in fibroblasts and/or other tissues. In generalized GALE deficiency, the activity is profoundly decreased in all tissues.
How rare: How common this is has not been clearly measured.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0009257
- OMIM:230350
- UMLS:C0751161
Additional Mondo synonyms (5)
GALE-D · epimerase deficiency galactosemia · galactose epimerase deficiency · galactosemia type 3 · uridine diphosphate galactose-4-epimerase 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.
- Gene identifiedPresent
Definitive — GALE
- LiteraturePresent
38,514 matched papers (15,103 in last 10 years) Source
- Phenotype characterisedPresent
29 HPO annotations (e.g. Weight loss; Feeding difficulties; Cataract) Source
- Animal modelNot found
No Alliance genotype “model of” associations via Monarch for these Mondo IDs
- Orphan designationNot found
No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source
- 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?
Yes — we know a specific gene responsible (GALE).
GenCC classification: Definitive.
Phenotypes (Monarch / HPO)
29
Associated phenotypes · MONDO:0009257
- Weight loss
- Feeding difficulties
- Cataract
- Intellectual disability
- Hypotonia
Showing 5 of 29 — 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?
38,514
38,514 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.
38,514 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).
15,103 in the last 10 years · low confidence
Phrase hits: 856 · MeSH hits: 0
Who's working on it?
1,376
Distinct author names in 200 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.
- 01Gale DP48 papers · 2026
Department of Renal Medicine, University College London, London, United Kingdom.
Papers in Europe PMC - 02Gale D24 papers · 2026
Cancer Research UK Cambridge Institute, University of Cambridge, Li Ka Shing Centre, Robinson Way, Cambridge CB2 0RE, UK.
Papers in Europe PMC - 03Sadeghi-Alavijeh O17 papers · 2026
Centre for Genetics and Genomics, UCL Department of Renal Medicine, UCL Medical School, Rowland Hill Street, London NW3 2PF
Papers in Europe PMC - 04Fridovich-Keil JL16 papers · 2017
Emory University School of Medicine, Atlanta, GA, United States. Electronic address: jfridov@emory.edu.
Papers in Europe PMC - 05Gale DJ15 papers · 2026
Centre for Neuroscience Studies, Queen's University, Kingston, Canada.
Papers in Europe PMC - 06Bockenhauer D12 papers · 2026
Department of Renal Medicine, University College London, London, UK.
Papers in Europe PMC - 07Gallivan JP12 papers · 2026
Department of Biomedical and Molecular Sciences, Queen's University, Kingston, Canada.
Papers in Europe PMC - 08Nashed JY10 papers · 2026
Centre for Neuroscience Studies, Queen's University, Kingston, Canada.
Papers in Europe PMC - 09Rosenfeld N10 papers · 2023
Cancer Research UK Cambridge Institute, University of Cambridge, Li Ka Shing Centre, Robinson Way, Cambridge CB2 0RE, UK. nitzan.rosenfeld@cruk.cam.ac.uk.
Papers in Europe PMC - 10Areshenkoff CN9 papers · 2026
Center for Neuroscience Studies, Queen's University, Kingston, ON K7L 3N6, Canada.
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.
low 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 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · dropped 0 · fetched 2026-07-30
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).
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 Galactose epimerase deficiency — check Associations / patient organisations on that page.
India — NPRD
Last verified 2026-07-26Likely covered — the policy lists Galactosemia as a category (Group 2), and this condition is a form of it. Confirm eligibility with a Centre of Excellence.
Group 2 — long-term / lifelong lower-cost interventions
NPRD envisages State Government support for dietary formulae, hormones, and other lower-cost interventions. This is a different route from the central CoE ₹50 lakh pathway; ask your state health department and a CoE which channel applies.
Central CoE funding may also apply depending on current rules — confirm with a notified Centre of Excellence. Do not assume the ₹50 lakh ceiling covers Group 2 by default. Verify
Centres of Excellence (15)
- All India Institute of Medical Sciences (AIIMS) — New Delhi, Delhi
- Maulana Azad Medical College — New Delhi, Delhi
- Sanjay Gandhi Post Graduate Institute of Medical Sciences — Lucknow, Uttar Pradesh
- Post Graduate Institute of Medical Education and Research (PGIMER) — Chandigarh, Chandigarh
- Centre for DNA Fingerprinting & Diagnostics with Nizam’s Institute of Medical Sciences — Hyderabad, Telangana
- King Edward Memorial Hospital — Mumbai, Maharashtra
- Institute of Post-Graduate Medical Education and Research (IPGMER) — Kolkata, West Bengal
- Centre for Human Genetics with Indira Gandhi Hospital — Bengaluru, Karnataka
- Institute of Child Health and Hospital for Children (ICH & HC) — Chennai, Tamil Nadu
- All India Institute of Medical Sciences (AIIMS) — Jodhpur, Rajasthan
- Sree Avittam Thirunal Hospital (SAT), Government Medical College — Thiruvananthapuram, Kerala
- All India Institute of Medical Sciences (AIIMS) — Bhopal, Madhya Pradesh
- Regional Institute of Medical Sciences (RIMS) — Imphal, Manipur
- All India Institute of Medical Sciences (AIIMS) — Patna, Bihar
- Assam Medical College & Hospital — Dibrugarh, Assam
Voluntary contributions / crowdfunding (separate from CoE funding): https://rarediseases.mohfw.gov.in/
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.
("Galactose epimerase deficiency" OR "GALE deficiency" OR "GALE deficiency galactosemia" OR "Galactose epimerase deficiency galactosemia" OR "Galactosemia type 3" OR "Galactosemia type III" OR "Type 3 galactosemia" OR "Type III galactosemia" OR "UDP-galactose-4-epimerase deficiency" OR "Uridine diphosphate galactose-4-epimerase deficiency" OR "GALE-D" OR "epimerase deficiency galactosemia") OR ("GALE" OR "GALE syndrome" OR "GALE-related")ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Galactose epimerase deficiency" OR "GALE deficiency" OR "GALE deficiency galactosemia" OR "Galactose epimerase deficiency galactosemia" OR "Galactosemia type 3" OR "Galactosemia type III" OR "Type 3 galactosemia" OR "Type III galactosemia" OR "UDP-galactose-4-epimerase deficiency" OR "Uridine diphosphate galactose-4-epimerase deficiency" OR "GALE-D" OR "epimerase deficiency galactosemia"
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
- Publication count (38514) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity
Ingested 2026-07-27T02:06:53.369Z