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ENBranched-Chain Keto Acid Dehydrogenase Kinase Deficiency (BCKDKD)
Alias:
Branched-Chain Ketoacid Dehydrogenase Kinase Deficiency
Bckdkd
Autism-Epilepsy Syndrome Due to Branched Chain Ketoacid Dehydrogenase Kinase Deficiency
Bckdk Deficiency
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Branched-Chain Keto Acid Dehydrogenase Kinase Deficiency, also known as branched-chain ketoacid dehydrogenase kinase deficiency, is related to maple syrup urine disease and epstein-barr virus hepatitis. An important gene associated with Branched-Chain Keto Acid Dehydrogenase Kinase Deficiency is BCKDK (Branched Chain Keto Acid Dehydrogenase Kinase), and among its related pathways/superpathways are Metabolism and Regulation of expression of SLITs and ROBOs. Affiliated tissues include brain, and related phenotypes are intellectual disability and seizure
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