RARE DISEASERESEARCH ATLAS
Open navigation menu

ORPHA:505208

3-methylglutaconic aciduria type 8

medium confidenceDisorder

Also known as: MGA8

Query health: suspect — Only one of 2 strategies returned hits (phrase).

Publications

26

40th percentile

Trials

0

Interventional, condition-specific

Researchers

160

Distinct authors in sample

Gene link

HTRA2

Definitive

Readiness

2/6

Stages with a signal

Clinical definition (Orphanet)

A rare organic aciduria characterized by onset of , recurrent apneic episodes, lack of psychomotor development, feeding difficulties, extrapyramidal signs, and . Other reported features include microcephaly, sensorineural deafness, bradycardia, and neutropenia. Laboratory studies show increased serum lactate and urinary excretion of 3-methylglutaconic acid. Brain imaging may reveal cerebral atrophy. The disease is lethal in infancy.

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.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

Additional Mondo synonyms (3)

3-methylglutaconic aciduria, type VIII · 3-methylglutaconic aciduria, type VIII; MGCA8 · MGCA8

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.

  1. Gene identifiedPresent

    Definitive — HTRA2

  2. LiteraturePresent

    26 matched papers (24 in last 10 years) Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  6. 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 (HTRA2).

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?

26

26 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.

26 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).

24 in the last 10 years · medium confidence · 40th percentile (publications denominator)

Phrase hits: 26 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

160

Distinct author names in 26 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.

  1. 01
    Baker MJ3 papers · 2025

    Department of Biochemistry and Pharmacology and The Bio21 Molecular Science and Biotechnology Institute, The University of Melbourne, Parkville, Australia.

    Papers in Europe PMC
  2. 02
    Stojanovski D3 papers · 2025

    Department of Biochemistry and Pharmacology and The Bio21 Molecular Science and Biotechnology Institute, The University of Melbourne, Parkville, Australia.

    Papers in Europe PMC
  3. 03
    Crameri JJ2 papers · 2024

    Department of Biochemistry and Pharmacology and The Bio21 Molecular Science and Biotechnology Institute, The University of Melbourne, Parkville, Australia.

    Papers in Europe PMC
  4. 04
    Frazier AE2 papers · 2024

    Royal Children's Hospital and Department of Paediatrics, Murdoch Children's Research Institute, The University of Melbourne, Parkville, Australia.

    Papers in Europe PMC
  5. 05
    Greenway SC2 papers · 2022

    Departments of Pediatrics, Cardiac Sciences and Biochemistry & Molecular Biology, Cumming School of Medicine, Alberta Children's Hospital Research Institute and Libin Cardiovascular Institute, University of Calgary, Calgary, AB T2N 4N1, Canada.

    Papers in Europe PMC
  6. 06
    Khan A2 papers · 2022

    Departments of Pediatrics and Medical Genetics, Cumming School of Medicine, Alberta Children's Hospital Research Institute, University of Calgary, Calgary, AB T3B 6A8, Canada.

    Papers in Europe PMC
  7. 07
    Liu Y2 papers · 2023

    Department of Genetics, Jiangxi Maternal and Child Health Hospital, 330006, Nanchang, China.

    Papers in Europe PMC
  8. 08
    Shutt TE2 papers · 2022

    Departments of Medical Genetics and Biochemistry & Molecular Biology, Cumming School of Medicine, Alberta Children's Hospital Research Institute, Hotchkiss Brain Institute, University of Calgary, Calgary, AB T2N 4N1, Canada.

    Papers in Europe PMC
  9. 09
    Thorburn DR2 papers · 2024

    Royal Children's Hospital and Department of Paediatrics, Murdoch Children's Research Institute, The University of Melbourne, Parkville, Australia.

    Papers in Europe PMC
  10. 10
    Zhao T2 papers · 2022

    Departments of Medical Genetics and Biochemistry & Molecular Biology, Cumming School of Medicine, Alberta Children's Hospital Research Institute, Hotchkiss Brain Institute, University of Calgary, Calgary, AB T2N 4N1, 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 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.

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 2026-07-26

Likely 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 8" OR "3-methylglutaconic aciduria, type VIII" OR "3-methylglutaconic aciduria, type VIII; MGCA8" OR "MGCA8"

Run this search on Europe PMC

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"3-methylglutaconic aciduria type 8" OR "3-methylglutaconic aciduria, type VIII" OR "3-methylglutaconic aciduria, type VIII; MGCA8" OR "MGCA8" OR "HTRA2" OR "classic organic aciduria"

Recall-expansion terms: HTRA2, classic organic aciduria

Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"3-methylglutaconic aciduria"

Query health: suspect — strategies attempted: phrase, recall-expansion; with hits: phrase

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: MGA8

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 2026-07-27T17:47:54.857Z