Branched-chain keto acid dehydrogenase kinase deficiency

MONDO:0013970

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: BCKDK deficiency, BCKDKD, autism - epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency, branched-chain keto acid dehydrogenase kinase deficiency, Bckdk deficiency, branched-chain KETO acid dehydrogenase KINASE deficiency

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Broader categories

Disease (717) Metabolic disease (241) Hereditary disease (188) Inborn errors of metabolism (47) Human disease (15) Inborn disorder of amino acid metabolism (6) Autosomal recessive disease (4) Amino acid metabolism disease (2) Disease of genetic or genomic mechanism (2) Autosomal genetic disease (0)

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