ORPHA:308487
Generalized galactose epimerase deficiency
Also known as: Generalized GALE deficiency · Generalized GALE-D · Generalized UDP-galactose-4-epimerase deficiency · Generalized epimerase deficiency galactosemia · Generalized uridine diphosphate galactose-4-epimerase deficiency
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
23
23.5th percentile
Trials
0
Interventional, condition-specific
Researchers
126
Distinct authors in sample
Gene link
—
Readiness
1/6
Stages with a signal
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0017692
- UMLS:C0574089
Additional Mondo synonyms (10)
generalised GALE deficiency · generalised GALE-D · generalised UDP-galactose-4-epimerase deficiency · generalised epimerase deficiency galactosemia · generalised uridine diphosphate galactose-4-epimerase deficiency · generalized GALE deficiency · generalized GALE-D · generalized UDP-galactose-4-epimerase deficiency · generalized epimerase deficiency galactosemia · generalized 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.”
1/6 stages with a signal
Research-stage checklist from open sources (GenCC, literature, Monarch when enriched, ClinicalTrials.gov). Not a prognosis or care recommendation.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
23 matched papers (7 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 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?
Not yet — the cause hasn't been pinned down in GenCC.
No strong gene–disease assertion joined for this Orphanet entity.
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?
23
23 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=5449) is 41.
23 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).
7 in the last 10 years · high confidence · 23.5th percentile (publications denominator)
Phrase hits: 23 · MeSH hits: 0
Who's working on it?
126
Distinct author names in 23 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.
- 01Fridovich-Keil JL10 papers · 2017
Emory University School of Medicine, Atlanta, GA, United States. Electronic address: jfridov@emory.edu.
Papers in Europe PMC - 02Berry GT2 papers · 2022
Division of Genetics and Genomics, Harvard Medical School, Boston Children's Hospital, 3 Blackfan Circle, Center for Life Science Building, Suite 14070, Boston, MA, 02115, USA.
Papers in Europe PMC - 03Borrone C2 papers · 1986Papers in Europe PMC
- 04Chhay JS2 papers · 2013Papers in Europe PMC
- 05Daenzer JM2 papers · 2017
Graduate Program in Genetics and Molecular Biology, Emory University, Atlanta, Georgia, United States of America.
Papers in Europe PMC - 06Jaeken J2 papers · 2017
Department of Paediatrics, University Hospital Gasthuisberg, Leuven, Belgium.
Papers in Europe PMC - 07Liu Y2 papers · 2013
Department of Human Genetics, Emory University, School of Medicine, Room 325.2 Whitehead Building, 615 Michael Street, Atlanta, GA, 30322, USA.
Papers in Europe PMC - 08Matthijs G2 papers · 2017
Center for Human Genetics, University of Leuven, Leuven, Belgium.
Papers in Europe PMC - 09Sanders RD2 papers · 2012
Graduate Program in Biochemistry, Cell and Developmental Biology, Emory University, Atlanta, GA 30322, USA.
Papers in Europe PMC - 10Superti-Furga A2 papers · 1986Papers 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 27 July 2026
No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.
high confidence · 36.5th 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.
Broader category galactose epimerase deficiency also has no matched interventional trial. See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
Broader category: galactose epimerase deficiency
0
Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.
Parent-category matching found a broader label but no interventional trials under it. How we count trials.
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.
"Generalized galactose epimerase deficiency" OR "Generalized GALE deficiency" OR "Generalized GALE-D" OR "Generalized UDP-galactose-4-epimerase deficiency" OR "Generalized epimerase deficiency galactosemia" OR "Generalized uridine diphosphate galactose-4-epimerase deficiency" OR "generalised GALE deficiency" OR "generalised GALE-D" OR "generalised UDP-galactose-4-epimerase deficiency" OR "generalised epimerase deficiency galactosemia" OR "generalised uridine diphosphate galactose-4-epimerase deficiency"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Generalized galactose epimerase deficiency" OR "Generalized GALE deficiency" OR "Generalized GALE-D" OR "Generalized UDP-galactose-4-epimerase deficiency" OR "Generalized epimerase deficiency galactosemia" OR "Generalized uridine diphosphate galactose-4-epimerase deficiency" OR "generalised GALE deficiency" OR "generalised GALE-D" OR "generalised UDP-galactose-4-epimerase deficiency" OR "generalised epimerase deficiency galactosemia" OR "generalised uridine diphosphate galactose-4-epimerase deficiency" OR "disorder of galactose and fructose metabolism"
Recall-expansion terms: disorder of galactose and fructose metabolism
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"galactose epimerase deficiency"
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 2026-07-27T12:52:33.850Z