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 2 strategies returned hits (phrase).
Publications
1,311
Trials
0
Interventional, condition-specific
Researchers
1,065
Distinct authors in sample
Gene link
ACADSB
Definitive
Readiness
3/6
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.”
3/6 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
1,311 matched papers (963 in last 10 years) Source
- Phenotype characterisedPresent
21 HPO annotations (e.g. Failure to thrive in infancy; Microcephaly; Autism) Source
- Animal modelNot found
No Alliance genotype “model of” associations via Monarch for these Mondo IDs
- Orphan designationNot found
No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source
- 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)
21
Associated phenotypes · MONDO:0012392
- Failure to thrive in infancy
- Microcephaly
- Autism
- Elevated circulating C5 acylcarnitine concentration
- Seizure
Showing 5 of 21 — open Monarch for the full list.
Animal models (Monarch / Alliance)
None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.
Monarch fetch 2026-07-29
Therapies
Designations, candidates, and chemicals
FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.
Orphan designation (FDA · EMA)
No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.
Open Targets candidates
No drugs or clinical candidates returned for this Mondo ID on Open Targets.
CTD chemicals (MyDisease.info)
No CTD chemical associations returned for this Mondo ID.
Literature
Is anyone studying this?
1,311
1,311 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.
1,311 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 59 (publications denominator n=3967).
963 in the last 10 years · low confidence
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 11 September 2026 · last trial check 11 September 2026
No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.
low confidence · 38.6th 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.
Other registries (secondary)
Broader net from EU CTIS, ISRCTN, and ICTRP when available — deduped against ClinicalTrials.gov IDs already counted above. Dual-model LLM relevance gates what we keep. These rows are not added to the interventional headline.
raw 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · dropped 0 · fetched 2026-07-30
Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri
No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).
Where to find support
Condition-specific patient organisations, when Orphanet lists them, are on the disease’s Orphanet page. We also link umbrella groups that support undiagnosed and ultra-rare families.
Orphanet entry for 2-methylbutyryl-CoA dehydrogenase deficiency — check Associations / patient organisations on that page.
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") OR (MESH:"2-Methylbutyryl-CoA Dehydrogenase Deficiency") OR ("ACADSB" OR "ACADSB syndrome" OR "ACADSB-related")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"
Study-type breakdown: 0 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: suspect — strategies attempted: phrase, mesh; 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
- Publication count (1311) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity
Ingested 2026-07-27T02:05:18.406Z