Orphanet: Autism epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency

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Disease definition

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.

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Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency

ORPHA:308410

A summary on this disease is available in Español (2018) Français (2018) Italiano (2018) Nederlands (2018) Polski ()

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