OBO ID: DOID:0090126
Term Name: branched-chain keto acid dehydrogenase kinase deficiency Search Ontology:
Synonyms:
  • autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency
  • BCKDK deficiency
  • BCKDKD
Definition: An amino acid metabolic disorder that is characterized by autism, epilepsy, intellectual disability, and reduced levels of branched-chain amino acids that has_material_basis_in homozygous mutation in the branched chain keto acid dehydrogenase kinase gene (BCKDK) on chromosome 16p11. (2)
References:
Ontology: Human Disease   (DOID:0090126)
OTHER branched-chain keto acid dehydrogenase kinase deficiency PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
BCKDK Branched-chain keto acid dehydrogenase kinase deficiency 614923
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None