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Metadata
DOID DOID:0090126
Name branched-chain keto acid dehydrogenase kinase deficiency
Definition An autosomal recessive disease characterized by autism, epilepsy, intellectual disability, and reduced levels of branched-chain amino acids that has_material_basis_in homozygous mutation in the BCKDK gene on chromosome 16p11.
Synonyms

autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency [EXACT]

BCKDK deficiency [EXACT]

BCKDKD [EXACT]

Xrefs

ICD10CM:E71.1

OMIM:614923

ORDO:308410

Relationships

is_a autosomal recessive disease

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