RARE DISEASERESEARCH ATLAS
Open navigation menu

ORPHA:352328

MEGDEL syndrome

medium confidenceDisorder

Also known as: 3-methylglutaconic aciduria with deafness-encephalopathy-Leigh-like syndrome · 3-methylglutaconic aciduria with hearing loss-encephalopathy-Leigh-like syndrome

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

Publications

171

70.4th percentile

Trials

0

Interventional, condition-specific

Researchers

1,197

Distinct authors in sample

Gene link

SERAC1

Definitive

Readiness

2/6

Stages with a signal

Clinical definition (Orphanet)

MEGDEL syndrome is a rare, genetic, neurometabolic disorder characterized by , features of sepsis that are not linked to infection, development of feeding problems, , transient liver dysfunction, and truncal followed by dystonia and spasticity which results in psychomotor development arrest and/or regression. sensorineural deafness, and absent speech are also associated. Laboratory tests demonstrate 3-methylglutaconic aciduria and temporary elevated serum lactate and transaminases.

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 (5)

3-methylglutaconic aciduria caused by mutation in SERAC1 · 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome · MEGDEL · MGCA6 · SERAC1 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.

  1. Gene identifiedPresent

    Definitive — SERAC1

  2. LiteraturePresent

    171 matched papers (127 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 (SERAC1).

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?

171

171 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.

171 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).

127 in the last 10 years · medium confidence · 70.4th percentile (publications denominator)

Phrase hits: 171 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,197

Distinct author names in 171 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
    Wortmann SB16 papers · 2024

    833 Nijmegen Centre for Mitochondrial Disorders, Department of Pediatrics, Institute of Genetic and Metabolic Disease (IGMD), Radboud University Nijmegen Medical Centre, P.O Box 9101, 6500 HB Nijmegen, The Netherlands.

    Papers in Europe PMC
  2. 02
    Wevers RA12 papers · 2024

    Department of Laboratory Medicine, Translational Metabolic Laboratory, Radboudumc, 6525GA Nijmegen, the Netherlands.

    Papers in Europe PMC
  3. 03
    Rahman S8 papers · 2025

    Genetics and Genomics Medicine Programme, UCL Institute of Child Health, London, UK.

    Papers in Europe PMC
  4. 04
    Morava E7 papers · 2017

    Hayward Genetics Center and Department of Pediatrics, Tulane University Medical School, New Orleans, LA, United States.

    Papers in Europe PMC
  5. 05
    Finsterer J6 papers · 2020

    Neurological Department, Municipal Hospital Rudolfstiftung, A-1030 Vienna, Austria.

    Papers in Europe PMC
  6. 06
    Mayr JA6 papers · 2024

    Department of Paediatrics, Paracelsus Medical University Salzburg, Salzburg, 5020, Austria, H.Mayr@salk.at.

    Papers in Europe PMC
  7. 07
    Pronicka E6 papers · 2017

    Department of Pediatrics, Nutrition and Metabolic Diseases, Department of Medical Genetics, Children's Memorial Health Institute, 20 Aleja Dzieci Polskich, 04-730 Warsaw, Poland.

    Papers in Europe PMC
  8. 08
    de Brouwer AP5 papers · 2017

    Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboudumc, 6500HB Nijmegen, the Netherlands.

    Papers in Europe PMC
  9. 09
    Haack TB5 papers · 2024

    Institute of Human Genetics, Helmholtz Zentrum Munich, 85764 Neuherberg, Germany; Institute of Human Genetics, Technische Universität München, 81675 Munich, Germany.

    Papers in Europe PMC
  10. 10
    Rodenburg RJ5 papers · 2016

    Nijmegen Center for Mitochondrial Disorders (NCMD), 656 Department of Pediatrics, Department of Laboratory Medicine, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands. r.rodenburg@cukz.umcn.nl

    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.

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 2026-07-26

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.

"MEGDEL syndrome" OR "3-methylglutaconic aciduria with deafness-encephalopathy-Leigh-like syndrome" OR "3-methylglutaconic aciduria with hearing loss-encephalopathy-Leigh-like syndrome" OR "3-methylglutaconic aciduria caused by mutation in SERAC1" OR "3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome" OR "MEGDEL" OR "MGCA6" OR "SERAC1 3-methylglutaconic aciduria"

Run this search on Europe PMC

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

"MEGDEL syndrome" OR "3-methylglutaconic aciduria with deafness-encephalopathy-Leigh-like syndrome" OR "3-methylglutaconic aciduria with hearing loss-encephalopathy-Leigh-like syndrome" OR "3-methylglutaconic aciduria caused by mutation in SERAC1" OR "3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome" OR "MEGDEL" OR "MGCA6" OR "SERAC1 3-methylglutaconic aciduria" OR "SERAC1"

Recall-expansion terms: SERAC1

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 short or not clearly distinctive
  • No synonyms dropped by stoplist
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-27T14:10:51.577Z