ORPHA:308410
Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency
Publications
40
44.5th percentile
Trials
0
Interventional, condition-specific
Researchers
363
Distinct authors in sample
Gene link
BCKDK
Definitive
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare disorder of branched-chain amino acid metabolism characterized by childhood-onset , autism and with reduced levels of plasma branched chain aminoacids.
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:0013970
- OMIM:614923
- UMLS:C3554078
Additional Mondo synonyms (4)
BCKDK deficiency · BCKDKD · autism - epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency · branched-chain keto acid dehydrogenase kinase 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 — BCKDK
- LiteraturePresent
40 matched papers (31 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 (BCKDK).
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?
40
40 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.
40 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).
31 in the last 10 years · high confidence · 44.5th percentile (publications denominator)
Phrase hits: 40 · MeSH hits: 0
Who's working on it?
363
Distinct author names in 40 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.
- 01Artuch R4 papers · 2023
Department of Biochemistry, Hospital Sant Joan de Déu (HSJD), U-703 CIBER de Enfermedades Raras (CIBERER), Barcelona, Spain.
Papers in Europe PMC - 02Liu Y4 papers · 2026
Signature Research Programme in Cardiovascular and Metabolic Disorders, DukeNUS Medical School, Singapore.
Papers in Europe PMC - 03Rodríguez-Pombo P4 papers · 2023
Centro de Diagnóstico de Enfermedades Moleculares (CEDEM), Departamento de Biología Molecular, Centro de Biología Molecular Severo Ochoa (CSIC-UAM), U-746 Centro de Investigación Biomédica en Red de Enfermedades Raras CIBERER-ISCIII, IDIPAZ, Universidad Autónoma de Madrid, Spain.
Papers in Europe PMC - 04Ahrens-Nicklas RC3 papers · 2026
Department of Pediatrics, Children's Hospital of Philadelphia, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA, ahrensnicklasr@chop.edu.
Papers in Europe PMC - 05Arany Z3 papers · 2024
Perelman School of Medicine, University of Pennsylvania, 3400 Civic Boulevard, Philadelphia, PA 19104, USA. Electronic address: zarany@pennmedicine.upenn.edu.
Papers in Europe PMC - 06García-Cazorla A3 papers · 2023
Department of Neurology, Hospital Sant Joan de Déu (HSJD), U-703 CIBER de Enfermedades Raras (CIBERER), Barcelona, Spain.
Papers in Europe PMC - 07Anthony TG2 papers · 2023
Department of Nutritional Sciences and the New Jersey Institute for Food, Nutrition and Health, Rutgers University, New Brunswick, NJ 08901, USA.
Papers in Europe PMC - 08Boemer F2 papers · 2023
Biochemical Genetics Laboratory, Department of Human Genetics, CHU of Liege, University of Liege, 4000 Liege, Belgium.
Papers in Europe PMC - 09Bravo-Alonso I2 papers · 2016
Centro de Diagnóstico de Enfermedades Moleculares (CEDEM), Departamento de Biología Molecular, Centro de Biología Molecular Severo Ochoa (CSIC-UAM), U-746 Centro de Investigación Biomédica en Red de Enfermedades Raras CIBERER-ISCIII, IDIPAZ, Universidad Autónoma de Madrid, Spain.
Papers in Europe PMC - 10Burrage LC2 papers · 2014
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 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. 2 observational studies 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
2 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.
Recruiting or not-yet-recruiting
- NCT01238250·RECRUITING·Online Study of People Who Have Genetic Changes and Features of Autism: Simons Searchlight
Conditions: 16P11.2 Deletion Syndrome · 16p11.2 Duplications · 1Q21.1 Deletion · 1Q21.1 Microduplication Syndrome (Disorder)·Matched via recall expansion
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 2026-07-26This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.
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.
"Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency" OR "BCKDK deficiency" OR "BCKDKD" OR "autism - epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency" OR "branched-chain keto acid dehydrogenase kinase deficiency"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency" OR "BCKDK deficiency" OR "BCKDKD" OR "autism - epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency" OR "branched-chain keto acid dehydrogenase kinase deficiency" OR "BCKDK" OR "inborn disorder of branched-chain amino acid metabolism"
Recall-expansion terms: BCKDK, inborn disorder of branched-chain amino acid metabolism
Study-type breakdown: 0 interventional · 2 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase, recall-expansion; with hits: phrase, recall-expansion
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 2026-07-27T12:52:00.993Z