ORPHA:570422
Galactose mutarotase deficiency
Also known as: Galactosemia type IV · Type 4 galactosemia · Type IV galactosemia · GALM deficiency · GALM deficiency galactosemia · Galactose mutarotase deficiency galactosemia · Galactosemia type 4
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
37
44.5th percentile
Trials
0
Interventional, condition-specific
Researchers
234
Distinct authors in sample
Gene link
GALM
Strong
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare genetic disorder of galactose metabolism characterized by persistent galactosemia due to deficiency of the galactose mutarotase. Patients may present bilateral cataract, mild liver dysfunction/elevated AST, ALT/ and jaundice in the period.
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:0030105
- OMIM:618881
- UMLS:C5394377
Additional Mondo synonyms (4)
GALAC4 · GALACTOSEMIA IV · Galactose Mutarotase Deficiency · galactosemia iv
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.”
2/6 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
Strong — GALM
- LiteraturePresent
37 matched papers (31 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?
Yes — we know a specific gene responsible (GALM).
GenCC classification: Strong.
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?
37
37 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.
37 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).
31 in the last 10 years · high confidence · 44.5th percentile (publications denominator)
Phrase hits: 37 · MeSH hits: 0
Who's working on it?
234
Distinct author names in 37 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.
- 01Kikuchi A6 papers · 2025
Department of Pediatrics, Tohoku University School of Medicine, Sendai, Japan. akikuchi-thk@umin.ac.jp.
Papers in Europe PMC - 02Kure S6 papers · 2025
Department of Pediatrics, Tohoku University School of Medicine, Sendai, Japan.
Papers in Europe PMC - 03Wada Y6 papers · 2025
Department of Pediatrics, Tohoku University School of Medicine, Sendai, Japan.
Papers in Europe PMC - 04Arai-Ichinoi N4 papers · 2024
Department of Pediatrics, Tohoku University School of Medicine, Sendai, Japan.
Papers in Europe PMC - 05Timson DJ4 papers · 2021
School of Pharmacy and Biomolecular Sciences University of Brighton Brighton UK.
Papers in Europe PMC - 06Nyuzuki H3 papers · 2024
Division of Pediatrics, Department of Homeostatic Regulation and Development, Niigata University Graduate School of Medicine and Dental Sciences, Niigata 951-8510, Japan.
Papers in Europe PMC - 07Banford S2 papers · 2021
South Eastern Health and Social Care Trust, Downpatrick BT30 6RL, UK.
Papers in Europe PMC - 08Barbosa-Gouveia S2 papers · 2024
Diagnosis and Treatment of Congenital Metabolic Diseases, University Clinical Hospital of Santiago de Compostela, A Coruña, Spain.
Papers in Europe PMC - 09Bóveda MD2 papers · 2024
Diagnosis and Treatment of Congenital Metabolic Diseases, University Clinical Hospital of Santiago de Compostela, A Coruña, Spain.
Papers in Europe PMC - 10Couce ML2 papers · 2024
Diagnosis and Treatment of Congenital Metabolic Diseases, University Clinical Hospital of Santiago de Compostela, A Coruña, Spain. maria.luz.couce.pico@sergas.es.
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 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.
See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
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 mutarotase deficiency" OR "Galactosemia type IV" OR "Type 4 galactosemia" OR "Type IV galactosemia" OR "GALM deficiency" OR "GALM deficiency galactosemia" OR "Galactose mutarotase deficiency galactosemia" OR "Galactosemia type 4" OR "GALAC4" OR "GALACTOSEMIA IV"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Galactose mutarotase deficiency" OR "Galactosemia type IV" OR "Type 4 galactosemia" OR "Type IV galactosemia" OR "GALM deficiency" OR "GALM deficiency galactosemia" OR "Galactose mutarotase deficiency galactosemia" OR "Galactosemia type 4" OR "GALAC4" OR "GALACTOSEMIA IV" OR "GALM" OR "disorder of galactose and fructose metabolism" OR "disorder of galactose metabolism"
Recall-expansion terms: GALM, disorder of galactose and fructose metabolism, disorder of galactose metabolism
Study-type breakdown: 0 interventional · 0 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 2026-07-27T18:31:15.541Z