Function of BCKD kinase in the metabolism of branched-chain amino acids (BCAA). Mutations in BCKDK lead to an increased activity of the BCKDH, breaking down valine, leucine and isoleucine at a high rate. This leads to a depletion of BCAA, resulting in a neurodevelopmental phenotype with epilepsy, intellectual disability and autistic features.

Ingo Helbig

Child Neurology Fellow and epilepsy genetics researcher at the Children’s Hospital of Philadelphia (CHOP), USA and Department of Neuropediatrics, Kiel, Germany

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