branched-chain keto acid dehydrogenase kinase deficiency
A rare disorder of branched-chain amino acid metabolism characterized by childhood-onset epilepsy, autism and intellectual disability with reduced levels of plasma branched chain aminoacids.
MONDO:0006025
autosomal recessive disease
is_a
MONDO:0019242
inborn disorder of branched-chain amino acid metabolism
is_a
BCKDK deficiency
exact
BCKDKD
exact
autism - epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency
exact
branched-chain keto acid dehydrogenase kinase deficiency
exact