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

0 clinical trials for this condition and its sub-types, 0 tagged with Branched-chain keto acid dehydrogenase kinase deficiency itself.

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↑ Autosomal recessive disease (999) ↑ Inborn disorder of branched-chain amino acid metabolism (4)

Including sub-types (0) Tagged with Branched-chain keto acid dehydrogenase kinase deficiency (0)

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