branched-chain keto acid dehydrogenase kinase deficiency
Findings
No curated finding names branched-chain keto acid dehydrogenase kinase deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A rare disorder of branched-chain amino acid metabolism characterized by childhood-onset epilepsy, autism and intellectual disability with reduced levels of plasma branched chain aminoacids.
Definition from the Mondo Disease Ontology (MONDO:0013970), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset · Childhood onset
HPO, annotations 2026-09-02
Features
49 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- CataractHPOHP:0000518
- 1 of 1 reported patient
- Global developmental delayHPOHP:0001263
- 27 of 27 reported patients
- Intellectual disabilityHPOHP:0001249
- 22 of 22 reported patients
- Language impairmentHPOHP:0002463
- 17 of 17 reported patients
- Motor delayHPOHP:0001270
- 26 of 26 reported patients
- Simple febrile seizureHPOHP:0011171
- 3 of 3 reported patients
- HypoleucinemiaHPOHP:0500143
Show the remaining 37
- Decreased CSF leucine concentrationHPOHP:0500190
- 19 of 21 reported patients
- Progressive microcephalyHPOHP:0000253
- 17 of 20 reported patients
- Autistic behaviorHPOHP:0000729
- 20 of 25 reported patients
- ClumsinessHPOHP:0002312
- 12 of 15 reported patients
- Secondary microcephalyHPOHP:0005484
- 16 of 20 reported patients
- Interictal epileptiform activityHPOHP:0011182
- 17 of 24 reported patients
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- BCKDKHGNC:16902
- Definitive · ClinGen · Autosomal recessive · 2019
- Strong · Ambry Genetics · Autosomal recessive · 2018
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
3 names
Resolves to: branched-chain keto acid dehydrogenase kinase deficiency
- Also called
- autism - epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiencyBCKDK deficiencyBCKDKD