has material basis in germline mutation in BCKDK autosomal recessive disease branched-chain keto acid dehydrogenase kinase deficiency https://github.com/monarch-initiative/mondo/issues/4985 https://www.malacards.org/card/branched_chain_keto_acid_dehydrogenase_kinase_deficiency DOID:0090126 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. autism - epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency BCKDKD branched-chain KETO acid dehydrogenase KINASE deficiency Orphanet:308410 BCKDK deficiency MEDGEN:766992 OMIM:614923 UMLS:C3554078 branched-chain keto acid dehydrogenase kinase deficiency MONDO:0013970 Bckdk deficiency GARD:0017389 inborn disorder of branched-chain amino acid metabolism