Term Name:	branched-chain keto acid dehydrogenase kinase deficiency
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.
Ontology:	Human Disease [DOID:0090126]   ( DOID:0090126 )