Guess who's BCKDK (this is BCKDK, or at least its structure). Image by Wikipedia user Emw.

Speaking of awkward acronyms: BCKDK.
It's branched-chain alpha-ketoacid dehydrogenase kinase, an enzyme critical to amino acid metabolism in humans. Defects in BCKDK are linked with some forms of autism.

A single residue change appears to confer the disease phenotype.