branched-chain keto acid dehydrogenase kinase deficiency

created [InstanceEdit:9912467] Rothfels, Karen, 2024-06-08
databaseName DOID
dbId 9912464
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.
displayName branched-chain keto acid dehydrogenase kinase deficiency
identifier 0090126
name
  • branched-chain keto acid dehydrogenase kinase deficiency
referenceDatabase [ReferenceDatabase:1247631] DOID
schemaClass Disease
synonym
  • BCKDKD
  • BCKDK deficiency
  • autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency
url https://www.ebi.ac.uk/ols4/ontologies/doid/terms?obo_id=DOID:0090126
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