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Summary Literature (0)
DOID:0090126 - branched-chain keto acid dehydrogenase kinase deficiency

Disease Ontology 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.

Synonyms: autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency, BCKDKD, BCKDK deficiency

Xenbase Genes : bckdk

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0013970 - branched-chain keto acid dehydrogenase kinase deficiency

MIM:
MIM:614923 - BRANCHED-CHAIN KETO ACID DEHYDROGENASE KINASE DEFICIENCY; BCKDKD

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): amino acid metabolic disorder (is_a), autosomal recessive disease (is_a)