Branched-Chain Keto Acid Dehydrogenase Kinase Deficiency (BCKDKD)

Branched-Chain Keto Acid Dehydrogenase Kinase Deficiency, 也被称为Branched-chain ketoacid dehydrogenase kinase deficiency，与枫糖尿病和Epstein-Barr病毒性肝炎有关。与Branched-Chain Keto Acid Dehydrogenase Kinase Deficiency相关的基因是BCKDK（Branched Chain Keto Acid Dehydrogenase Kinase），其相关通路/超级通路包括代谢和SLITs和ROBOs表达的调节。附属组织包括大脑，相关表型为智力障碍和癫痫。