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ORPHA:308410

Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency

low confidenceDisorder

Publications

1,126

Trials

0

Interventional, condition-specific

Researchers

363

Distinct authors in sample

Gene link

BCKDK

Definitive

Readiness

4/6

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.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

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.”

4/6 stages with a signal

No matched interventional trial, but a gene association and an animal model are on record — often described as translation-ready / stalled at the clinical step.

  1. Gene identifiedPresent

    Definitive — BCKDK

  2. LiteraturePresent

    1,126 matched papers (840 in last 10 years) Source

  3. Phenotype characterisedPresent

    49 HPO annotations (e.g. Aggressive behavior; Autism; Restlessness) Source

  4. Animal modelPresent

    2 genotype models (Rattus norvegicus, Mus musculus) Source

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  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 (BCKDK).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

49

Associated phenotypes · MONDO:0013970

  • Aggressive behavior
  • Autism
  • Restlessness
  • Hyperactivity
  • Intellectual disability

Showing 5 of 49 — open Monarch for the full list.

Animal models (Monarch / Alliance)

2

Model associations linked to this Mondo ID

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?

1,126

1,126 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.

1,126 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).

840 in the last 10 years · low confidence

Phrase hits: 40 · MeSH hits: 0

Open Europe PMC search

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.

  1. 01
    Artuch 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
  2. 02
    Liu Y4 papers · 2026

    Signature Research Programme in Cardiovascular and Metabolic Disorders, DukeNUS Medical School, Singapore.

    Papers in Europe PMC
  3. 03
    Rodríguez-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
  4. 04
    Ahrens-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
  5. 05
    Arany 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
  6. 06
    García-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
  7. 07
    Anthony 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
  8. 08
    Boemer F2 papers · 2023

    Biochemical Genetics Laboratory, Department of Human Genetics, CHU of Liege, University of Liege, 4000 Liege, Belgium.

    Papers in Europe PMC
  9. 09
    Bravo-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
  10. 10
    Burrage 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. 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.

Open the complete matched search on ClinicalTrials.gov

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 Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency — check Associations / patient organisations on that page.

India — NPRD

Last verified 2026-07-26

This 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") OR ("BCKDK" OR "BCKDK syndrome" OR "BCKDK-related")

Run this search on Europe PMC

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"

Study-type breakdown: 0 interventional · 1 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

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 (1126) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-27T12:52:00.993Z