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

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Autism-epilepsy syndrome due to branched chain ketoacid 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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version March 2024

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

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Clinical Trials

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