MONDO_0013970 (branched-chain keto acid dehydrogenase kinase deficiency) is 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. Also known as: BCKDK deficiency, BCKDKD, autism - epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency.