| BCKDK | Branched-Chain α-Ketoacid Dehydrogenase Kinase |
| BCKDH | Branched-Chain α-Ketoacid Dehydrogenase |
| BCAA | Branched-Chain Amino Acids |
| CSF | Cerebrospinal Fluid |
| DBS | Dried Blood Spots |
| NBS | Newborn Screening |
| WES | Whole Exome Sequencing |
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