ORPHA:79157
2-methylbutyryl-CoA dehydrogenase deficiency
Also known as: 2-methylbutyric aciduria · Developmental delay due to 2-methylbutyryl-CoA dehydrogenase deficiency · SBCAD deficiency · Short/branched-chain acyl-coA dehydrogenase deficiency
Query health: suspect — Only one of 3 strategies returned hits (phrase).
Publications
145
66.4th percentile
Trials
0
Interventional, condition-specific
Researchers
1,065
Distinct authors in sample
Gene link
ACADSB
Definitive
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare organic aciduria characterized by impaired isoleucine degradation with increased plasma or whole blood C5 acylcarnitine levels (typically observed in newborn screening) and increased urinary excretion of N-methylbutyrylglycine. The condition is usually clinically asymptomatic, although patients with muscular , , and (among others) have been reported.
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:0012392
- MeSH:C566487
- OMIM:610006
- UMLS:C1864912
- NCIT:C98863
Additional Mondo synonyms (4)
2-methylbutyrylglycinuria · butyryl-CoA dehydrogenase deficiency · developmental delay due to 2-methylbutyryl-CoA dehydrogenase deficiency · short/branched-chain acyl-coA dehydrogenase 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.”
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 — ACADSB
- LiteraturePresent
145 matched papers (101 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 (ACADSB).
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?
145
145 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.
145 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).
101 in the last 10 years · high confidence · 66.4th percentile (publications denominator)
Phrase hits: 145 · MeSH hits: 0
Who's working on it?
1,065
Distinct author names in 145 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.
- 01Vockley J8 papers · 2025
Department of Pediatrics, University of Pittsburgh School of Medicine, Children's Hospital of Pittsburgh, 3705 Fifth Avenue, Pittsburgh, PA 15238, USA. gerard.vockley@chp.edu
Papers in Europe PMC - 02Ensenauer R6 papers · 2025
Metabolic Unit, University Children's Hospital, Freiburg, Germany. ensenauer.regina@mayo.edu
Papers in Europe PMC - 03Wanders RJ6 papers · 2012
Head Lab Genetic Metabolic Diseases, Room F0-226 Academic Medical Center, University of Amsterdam, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands. r.j.wanders@amc.uva.nl
Papers in Europe PMC - 04Andresen BS5 papers · 2007
Research Unit for Molecular Medicine, Aarhus University Hospital, and Faculty of Health Science, Skejby Sygehus, DK 8200 Arhus N, Denmark. brage@biobase.dk
Papers in Europe PMC - 05Schielen PCJI5 papers · 2025
International Society for Neonatal Screening (ISNS) Office, 3721CK Bilthoven, The Netherlands.
Papers in Europe PMC - 06Bonham JR4 papers · 2024
Sheffield Children's NHS Foundation Trust, Sheffield S10 2TH, UK.
Papers in Europe PMC - 07Huang X4 papers · 2023
Department of Genetics and Metabolism, Children's Hospital of Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou, China.
Papers in Europe PMC - 08
- 09Lin Y4 papers · 2026
National Research Center of Engineering & Technology for Utilization of Botanical Functional Ingredients, Changsha, Hunan 410128, China.
Papers in Europe PMC - 10Platis D4 papers · 2026
Department of Newborn Screening, Institute of Child Health, 11527 Athens, Greece.
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.
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.
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.
"2-methylbutyryl-CoA dehydrogenase deficiency" OR "2-methylbutyric aciduria" OR "Developmental delay due to 2-methylbutyryl-CoA dehydrogenase deficiency" OR "SBCAD deficiency" OR "Short/branched-chain acyl-coA dehydrogenase deficiency" OR "2-methylbutyrylglycinuria" OR "butyryl-CoA dehydrogenase deficiency"
MeSH descriptor terms unioned into the query: 2-Methylbutyryl-CoA Dehydrogenase Deficiency
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"2-methylbutyryl-CoA dehydrogenase deficiency" OR "2-methylbutyric aciduria" OR "Developmental delay due to 2-methylbutyryl-CoA dehydrogenase deficiency" OR "SBCAD deficiency" OR "Short/branched-chain acyl-coA dehydrogenase deficiency" OR "2-methylbutyrylglycinuria" OR "butyryl-CoA dehydrogenase deficiency" OR "ACADSB"
Recall-expansion terms: ACADSB
Study-type breakdown: 0 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: suspect — strategies attempted: phrase, mesh, 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 2026-07-27T02:05:18.406Z