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

What is 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.

Inheritance type

Autosomal recessive

Prevalence

  • Worldwide: <1 in 1,000 000
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on "https://www.orphadata.com". Data version 1.3.16 / 4.1.7.