Human genes for branched-chain keto acid dehydrogenase kinase deficiency
Branched-chain keto acid dehydrogenase kinase deficiency [DOID:0090126]
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.
Synonyms: branched-chain keto acid dehydrogenase kinase deficiency, branchedchain keto acid dehydrogenase kinase deficiency, branched-chain keto acid dehydrogenase kinase deficiencies, DOID:0090126, autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency ...