DISEASES

Disease-gene associations mined from literature

Human genes for branched-chain keto acid dehydrogenase kinase deficiency

Branched-chain keto acid dehydrogenase kinase deficiency [DOID:0090126]

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:  branched-chain keto acid dehydrogenase kinase deficiency,  DOID:0090126,  branchedchain keto acid dehydrogenase kinase deficiency,  branched-chain keto acid dehydrogenase kinase deficiencies,  BCKDK deficiency ...