maple syrup urine disease, BCKDHA-related, cattle
Hereditary progressive neurological disease, resulting in death within a few days of birth due to a deficiency of activity of the mitochondrial enzyme branched-chain alpha-keto acid dehydrogenase (BCKADH) leading to elevated concentrations of branched chain alpha-keto acids and their precursors, the branched chain amino acids, valine, leucine and isoleucine in blood and tissues in cattle due to a variation in the BCKDHA gene.