. . . . . "BCKDHB" . . . . "Maple syrup urine disease. Complete defect of the E1 beta subunit of the branched chain alpha-ketoacid dehydrogenase complex due to a deletion of an 11-bp repeat sequence which encodes a mitochondrial targeting leader peptide in a family with the disease" . . . . "2018-04-05T10:17:11.353+02:00"^^ . . . . . .