ORPHA:134
Beta-ketothiolase deficiency
Also known as: 3-ketothiolase deficiency · 3-oxothiolase deficiency · Alpha methylacetoacetic aciduria · Alpha-methyl-acetoacetyl-CoA thiolase deficiency · Mitochondrial acetoacetyl-coenzyme A thiolase deficiency · T2 deficiency
Publications
4,790
Trials
0
Interventional, condition-specific
Researchers
1,198
Distinct authors in sample
Gene link
ACAT1
Definitive
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A rare, genetic organic aciduria affecting ketone body metabolism and the catabolism of isoleucine and characterized by intermittent ketoacidotic episodes associated with vomiting, dyspnea, tachypnoea, , lethargy and coma, with an onset during infancy and usually ceasing by adolescence.
How rare: How common this is has not been clearly measured.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0008760
- MeSH:C535434
- OMIM:203750
- UMLS:C1536500
- NCIT:C98841
Additional Mondo synonyms (4)
BKT · beta-ketothiolase deficiency · mitochondrial acetoacetyl-CoA thiolase deficiency · mitochondrial acetoacetyl-coenzyme A thiolase 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 — ACAT1
- LiteraturePresent
4,790 matched papers (3,564 in last 10 years) Source
- Phenotype characterisedPresent
48 HPO annotations (e.g. Fever; Tachypnea; Ketonuria) 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 (ACAT1).
GenCC classification: Definitive.
Phenotypes (Monarch / HPO)
48
Associated phenotypes · MONDO:0008760
- Fever
- Tachypnea
- Ketonuria
- Abnormality of mental function
- Coma
Showing 5 of 48 — 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?
4,790
4,790 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.
4,790 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).
3,564 in the last 10 years · low confidence
Phrase hits: 365 · MeSH hits: 0
Who's working on it?
1,198
Distinct author names in 200 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.
- 01Chen Y11 papers · 2026
Institute of Biopharmaceutical Research, State Key Laboratory of Macromolecular Drugs and Large-scale Preparation, Shandong Provincial Key Laboratory of Applied Technology for Protein and Peptide Drugs, Liaocheng University, Liaocheng 252059, P. R. China.
Papers in Europe PMC - 02Li X10 papers · 2026
College of Animal Science and Technology, Gansu Agricultural University, Lanzhou, China.
Papers in Europe PMC - 03Wang Z10 papers · 2026
Key Laboratory of Grassland Ecosystem, Ministry of Education, College of Pratacultural Science, Gansu Agricultural University, Lanzhou, China.
Papers in Europe PMC - 04Liu Y9 papers · 2026
Department of Ophthalmology & Otorhinolaryngology, Army 953 Hospital, Shigatse, Tibet 857000, China.
Papers in Europe PMC - 05Zhang S9 papers · 2026
Affiliated Hospital of Integrated Traditional Chinese and Western Medicine, Nanjing University of Chinese Medicine, Nanjing, China.
Papers in Europe PMC - 06
- 07Wang Y8 papers · 2026
Institute of Respiratory Diseases, Longhua Hospital, Shanghai University of Traditional Chinese Medicine, Shanghai, China.
Papers in Europe PMC - 08Zhang H8 papers · 2026
State Key Laboratory of Animal Disease Control and Prevention, Harbin Veterinary Research Institute, Chinese Academy of Agricultural Sciences, Harbin, China.
Papers in Europe PMC - 09Huang X7 papers · 2026
Institute of Respiratory Diseases, Longhua Hospital, Shanghai University of Traditional Chinese Medicine, Shanghai, China.
Papers in Europe PMC - 10Chang TY6 papers · 2026
Department of Biochemistry and Cell Biology, Geisel School of Medicine at Dartmouth, Hanover, NH 03755, USA.
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. 3 observational studies 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
3 observational studies match 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 2026-07-29
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 Beta-ketothiolase 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.
("Beta-ketothiolase deficiency" OR "3-ketothiolase deficiency" OR "3-oxothiolase deficiency" OR "Alpha methylacetoacetic aciduria" OR "Alpha-methyl-acetoacetyl-CoA thiolase deficiency" OR "Mitochondrial acetoacetyl-coenzyme A thiolase deficiency" OR "T2 deficiency" OR "mitochondrial acetoacetyl-CoA thiolase deficiency") OR ("ACAT1" OR "ACAT1 syndrome" OR "ACAT1-related")ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Beta-ketothiolase deficiency" OR "3-ketothiolase deficiency" OR "3-oxothiolase deficiency" OR "Alpha methylacetoacetic aciduria" OR "Alpha-methyl-acetoacetyl-CoA thiolase deficiency" OR "Mitochondrial acetoacetyl-coenzyme A thiolase deficiency" OR "T2 deficiency" OR "mitochondrial acetoacetyl-CoA thiolase deficiency"
Study-type breakdown: 0 interventional · 3 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase; with hits: phrase
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: BKT
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
- Publication count (4790) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity
Ingested 2026-07-26T12:34:20.610Z