Search Ontology:
Human Disease

branched-chain keto acid dehydrogenase kinase deficiency

Term ID
DOID:0090126
Synonyms
  • autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency
  • BCKDK deficiency
  • BCKDKD
Definition
An amino acid metabolic disorder that is characterized by autism, epilepsy, intellectual disability, and reduced levels of branched-chain amino acids that has_material_basis_in homozygous mutation in the branched chain keto acid dehydrogenase kinase gene (BCKDK) on chromosome 16p11. (2)
References
Ontology
Human Disease   ( DOID:0090126 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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