Branched-chain ketoacid dehydrogenase kinase deficiency

Definition:

Branched-chain ketoacid dehydrogenase kinase (BCKDK) deficiency is a familial comorbid intellectual disability, autism, and epilepsy, caused by mutations in the BCKDK. Patients also showed abnormally low plasma levels of branched-chain amino acids.

References:

[1]. Angels García-Cazorla, et al. Two novel mutations in the BCKDK (branched-chain keto-acid dehydrogenase kinase) gene are responsible for a neurobehavioral deficit in two pediatric unrelated patients. Hum Mutat. 2014 Apr;35(4):470-7. [Content Brief]

[2]. Gaia Novarino, et al. Mutations in BCKD-kinase lead to a potentially treatable form of autism with epilepsy. Science. 2012 Oct 19;338(6105):394-7. [Content Brief]

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