ORPHA:67046
3-methylglutaconic aciduria type 1
Also known as: 3-methylglutaconyl-CoA hydratase deficiency · 3MG-CoA hydratase deficiency · MGA1
Publications
57
48th percentile
Trials
0
Interventional, condition-specific
Researchers
428
Distinct authors in sample
Gene link
AUH
Definitive
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
3-methylglutaconic aciduria (3-MGA) type I is an inborn error of leucine metabolism with a variable clinical ranging from mildly delayed speech to psychomotor retardation, coma, , and dystonia.
How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0009610
- MeSH:C562801
- OMIM:250950
- UMLS:C0342727
- NCIT:C98683
Additional Mondo synonyms (4)
3-methylglutaconic aciduria caused by mutation in AUH · 3-methylglutaconic aciduria caused by mutation in auh · AUH 3-methylglutaconic aciduria · auh 3-methylglutaconic aciduria
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
Definitive — AUH
- LiteraturePresent
57 matched papers (37 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 (AUH).
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?
57
57 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.
57 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).
37 in the last 10 years · medium confidence · 48th percentile (publications denominator)
Phrase hits: 55 · MeSH hits: 2
Who's working on it?
428
Distinct author names in 57 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.
- 01Wevers RA4 papers · 2024
Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, The Netherlands.
Papers in Europe PMC - 02de Vries MC3 papers · 2025
Division of Metabolic Disorders, Department of Pediatrics, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.
Papers in Europe PMC - 03Duran M3 papers · 2013Papers in Europe PMC
- 04Gibson KM3 papers · 2000
Metabolic Disease Center, Baylor University Medical Center, Dallas, TX 75226.
Papers in Europe PMC - 05Huang X3 papers · 2024
Technical Support Center, Zhejiang Biosan Biochemical Technologies Co., Ltd, Hangzhou, China.
Papers in Europe PMC - 06Lehnert W3 papers · 2002Papers in Europe PMC
- 07Morava E3 papers · 2014Papers in Europe PMC
- 08Wortmann SB3 papers · 2014
Department of Pediatrics, Nijmegen Centre for Mitochondrial Disorders (NCMD), Amalia Children's Hospital, Radboud University Medical Centre, 9101, 6500 HB, Nijmegen, The Netherlands, Saskia.Wortmann-Hagemann@radboudumc.nl.
Papers in Europe PMC - 09Zschocke J3 papers · 2017
Division of Human Genetics, Medical University Innsbruck, Innsbruck, Austria.
Papers in Europe PMC - 10Carducci C2 papers · 2022
Dipartimento di Medicina Sperimentale, Sapienza University of Rome, 00161 Rome, Italy.
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. 1 observational study did — shown below because natural-history and cohort work can be an important step toward a trial.
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.
medium 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 3-methylglutaconic aciduria 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: 3-methylglutaconic aciduria
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.
Observational and natural-history studies
1 observational study matches 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.
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 Organic acidemia as a category (Group 1), and this condition is a form of it. Confirm eligibility with a Centre of Excellence.
Group 1 — one-time curative treatment
Up to ₹50 lakh per patient
Financial support for treatment at notified Centres of Excellence (figures evolved from the original ₹20 lakh Group-1 ceiling).
Policy figures change. Verify current MoHFW / CoE guidance before relying on any amount. 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.
"3-methylglutaconic aciduria type 1" OR "3-methylglutaconyl-CoA hydratase deficiency" OR "3MG-CoA hydratase deficiency" OR "3-methylglutaconic aciduria caused by mutation in AUH" OR "AUH 3-methylglutaconic aciduria"
MeSH descriptor terms unioned into the query: 3-Methylglutaconic Aciduria, Type I
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"3-methylglutaconic aciduria type 1" OR "3-methylglutaconyl-CoA hydratase deficiency" OR "3MG-CoA hydratase deficiency" OR "3-methylglutaconic aciduria caused by mutation in AUH" OR "AUH 3-methylglutaconic aciduria" OR "3-Methylglutaconic Aciduria, Type I" OR "AUH" OR "classic organic aciduria"
Recall-expansion terms: AUH, classic organic aciduria
Study-type breakdown: 0 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"3-methylglutaconic aciduria"
Query health: ok — strategies attempted: phrase, mesh, recall-expansion; with hits: phrase, mesh
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: MGA1
Confidence reasoning
- Preferred label is multi-word and distinctive
- 1 synonym(s) dropped by stoplist (may under-count)
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-27T01:26:11.636Z