Branched-chain keto acid dehydrogenase kinase deficiency
Branched-chain keto acid dehydrogenase kinase deficiency
Definition
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 autism - epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency, BCKDK deficiency, BCKDKD, branched-chain keto acid dehydrogenase kinase deficiency — per MONDO