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
856
85.2th percentile
Trials
1
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
An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.
- Gene identifiedPresent
Definitive — GALE
- LiteraturePresent
856 matched papers (307 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- Interventional trialPresent
1 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 (GALE).
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?
856
856 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.
856 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).
307 in the last 10 years · high confidence · 85.2th percentile (publications denominator)
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?
People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.
- 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?
1
interventional trials for this specific condition
1 interventional trial matched this specific condition name; none in our sample are currently recruiting.
Data as of 27 July 2026
1 interventional trial — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 76.8th percentile).
high confidence · 76.8th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
1 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.
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 2026-07-26Likely 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"
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" OR "GALE"
Recall-expansion terms: GALE
Interventional trials matched via: recall-expansion (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).
Study-type breakdown: 1 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase, recall-expansion; with hits: phrase, recall-expansion
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 2026-07-27T02:06:53.369Z