| BKTD | beta-ketothiolase deficiency |
| NBS | newborn screening |
| ACAT1 | acetyl-CoA acetyltransferase |
| VUS | variant of uncertain significance |
| 2M3HB | 2-methyl-3-hydroxybutyrate |
| 2MAA | 2-methylacetoacetate |
| TG | tiglylglycine |
| 1TT | first tier-test |
| 2TT | second tier-test |
| P | pathogenic variant |
| LP | likely pathogenic variant |
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