| allo-Ile | Alloisoleucine |
| AR | Abnormal result |
| ASA | Argininosuccinic aciduria |
| BCAAs | Branched-chain amino acids |
| BKT deficiency | Beta-ketothiolase deficiency |
| DBS | Dried blood spot |
| DI | Dietary intervention |
| GA1 | Glutaric aciduria type 1 |
| HCU | Homocystinuria |
| Hcy | Homocysteine |
| HFBA | Heptafluorobutyric acid |
| IEM | Inborn error of metabolism |
| IEMs | Inborn errors of metabolism |
| Ile | Isoleucine |
| IVA | Isovaleric aciduria |
| Leu | Leucine |
| LTx | Liver transplantation |
| Lys | Lysine |
| MAT I/III deficiency | Methionine adenosyltransferase I/III deficiency |
| MCA | Methylcitric acid |
| Met | Methionine |
| MMA | Methylmalonic aciduria |
| MRM | Multiple reaction monitoring |
| MS/MS | Tandem mass spectrometry |
| MSUD | Maple syrup urine disease |
| PA | Propionic aciduria |
| Phe | Phenylalanine |
| PKU | Phenylketonuria |
| tHcy | Total homocysteine |
| Trp | Tryptophan |
| Tyr | Tyrosine |
| TYR type III | Tyrosinemia type III |
| Val | Valine |