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GTR Home > Conditions/Phenotypes > Branched-chain keto acid dehydrogenase kinase deficiency


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. [from ORDO]

Available tests

20 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Genes See tests for all associated and related genes

  • Also known as: BCKDKD, BDK, BCKDK
    Summary: branched chain keto acid dehydrogenase kinase

Clinical features


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