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References OMIM Gene GeneReviews HGMD HGNC
last update : 15-02-2018
Location 16p11.2
Name branched-chain ketoacid dehydrogenase kinase deficiency
Corresponding gene BCKDK
Other symbol(s) AIDE
Main clinical features
  • autism, epilepsy, intellectual disability, and reduced branched-chain amino acids (BCAAs)
  • autism, intellectual disability (ID), and either seizure or abnormal electroencephalogram (EEG)
  • Genetic determination autosomal recessive
    Function/system disorder metabolism/aminoacids
    Type disease
  • plasma BCAAs ( branched-chain amino acids) in patient with a homozygous mutation showed notably lower levels of plasma BCAAs than their healthy relatives, and the neurological phenotype may be treated by dietary supplementation with BCAAs (PMID: 22956686))
  • patients with BCKDK mutations may lack basal, negative regulation of BCKDHA activity (PMID: 22956686)))