| MSUD | Maple syrup urine disease |
| BCKDH | Branched-chain α-ketoacid dehydrogenase complex |
| BCAAs | Branched-chain amino acids |
| BCKDHA | Branched-chain keto acid dehydrogenase E1α subunit |
| BCKDHB | Branched-chain keto acid dehydrogenase E1β subunit |
| DBT | Dihydrolipoamide branched-chain transacylase |
| DLD | Dihydrolipoamide dehydrogenase |
| pLOF | Predicted Loss-of-function variant |
| pnLOF | Predicted non-loss-of-function variant |
| VUS | Variant of uncertain significance |
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