Trine Tangeraas

Treating a Disorder Caused by an Overactive Enzyme: BCKD‐Kinase Deficiency

ABSTRACT Branched‐chain ketoacid dehydrogenase kinase (BCKDK) deficiency is a rare autosomal recessive disorder. Loss of this kinase leaves the branched‐chain α‐ketoacid dehydrogenase complex constitutively active, leading to depletion of branched‐chain amino acids (BCAAs) rather...