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

• ICD10CM:E71.1
• OMIM:614923
• ORDO:308410

Ontology

Human Disease   ( DOID:0090126 )